GNPTAB gene

The GNPTAB gene, also known as the alpha/beta-glucosaminidase, encodes an enzyme that plays a crucial role in the breakdown of complex molecules in the cell. This gene is listed in various catalogues and databases related to genetic health conditions and has been the focus of scientific research and testing.

Mutations in the GNPTAB gene have been found to be associated with several diseases, including mucolipidosis III, also known as MLIII. This condition is characterized by an increased buildup of certain substances in the body, leading to various health problems. The identification of genetic changes in this gene has made it possible to develop testing and registry resources for individuals with MLIII and other related conditions.

There are additional genes, such as the GNPTG gene, that also play a role in the functioning of hydrolases. The GNPTAB gene and the GNPTG gene together form the GNPTAB gene complex, which is involved in the proper functioning of lysosomal hydrolases. The GNPTAB gene complex is essential for the breakdown and recycling of substances in the cell.

Scientific articles and references related to the GNPTAB gene can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetic and health-related aspects of the GNPTAB gene and its variants. Researchers and healthcare professionals can access these databases to stay updated with the latest findings and discoveries in the field of genetic research and understanding of diseases.

In summary, the GNPTAB gene is an important gene involved in the breakdown of complex molecules in the cell. Mutations in this gene have been associated with various diseases, including mucolipidosis III. Scientific research and testing have been carried out to understand the genetic changes in this gene and their implications for health. Databases and resources such as PubMed and OMIM provide valuable information on the GNPTAB gene and its related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the GNPTAB gene can lead to several health conditions. Below is a list of some of the conditions related to these genetic changes:

  • Raas-Rothschild Syndrome: This condition is also known as GNPTAB-Related Disorders. It is caused by changes in the GNPTAB gene, which result in reduced activity of the enzymes known as N-acetylglucosamine-1-phosphate transferase alpha/beta. This condition is characterized by skeletal abnormalities, developmental delays, and intellectual disabilities. Additional information can be found in the OMIM entry 252500.
  • Mucolipidosis II Alpha/beta: This condition, also caused by changes in the GNPTAB gene, affects the activity of N-acetylglucosamine-1-phosphate transferase alpha/beta enzymes. It is characterized by developmental delays, skeletal abnormalities, and distinctive facial features. The OMIM entry 252500 provides more detailed information on this condition.
  • Mucolipidosis III Alpha/beta: Similar to Mucolipidosis II Alpha/beta, this condition is caused by changes in the GNPTAB gene. It also affects the N-acetylglucosamine-1-phosphate transferase alpha/beta enzymes. Symptoms may include delayed speech development and mild skeletal abnormalities. More information can be found in the OMIM entry 252605.
  • Other Conditions: Genetic changes in the GNPTAB gene may also be associated with other diseases and conditions. These conditions are still being researched, and further information can be found in scientific articles, as well as databases such as PubMed and the Genetic Testing Registry.

Testing for genetic changes in the GNPTAB gene can be done to diagnose these conditions. Increased knowledge about the genetic variant and mutation in this gene has made it possible for additional testing and accurate diagnosis of these health conditions.

For more information on specific health conditions related to genetic changes in the GNPTAB gene, references and articles can be found in OMIM, PubMed, and other scientific resources.

Mucolipidosis II alphabeta

Mucolipidosis II alphabeta, also known as I-Cell Disease, is a rare genetic disorder that affects the metabolism of carbohydrates and lipids in the body. It is caused by mutations in the GNPTAB gene, which codes for an enzyme called N-acetylglucosamine-1-phosphate transferase alpha/beta subunits.

Individuals with mucolipidosis II alphabeta have a deficiency in this enzyme, which leads to the dysfunction and abnormal accumulation of various substances within lysosomes, the cellular compartments responsible for breaking down and recycling waste materials. This accumulation leads to the characteristic features of mucolipidosis II alphabeta.

Mucolipidosis II alphabeta belongs to a group of conditions known as mucolipidoses, which are characterized by the abnormal accumulation of lipids and other materials in cells throughout the body. These conditions are often classified based on the specific enzyme deficiency involved.

There are several articles related to mucolipidosis II alphabeta available on PubMed and other scientific databases. The OMIM database provides additional information, including the genetic changes associated with this condition.

Currently, there are genetic tests available for the GNPTAB gene to confirm the diagnosis of mucolipidosis II alphabeta. These tests can detect the specific mutations in the gene that are associated with the condition. Additionally, there are registries and resources available for individuals and families affected by mucolipidosis II alphabeta, such as the I-Cell Disease Registry and the National Institute of Health’s Genetic and Rare Diseases Information Center.

It is important to note that mucolipidosis II alphabeta is a rare genetic disorder, and the prevalence varies among different populations. Genetic counseling and testing can help individuals and families understand the risk of passing on the condition.

References:

  • Raas-Rothschild A, et al. (2000). Mucolipidosis II phenotype associated with a missense mutation in a gene encoding a putative transcription factor. Nat Genet. 26(3):354-7.
  • Cathey SS, et al. (2008). Molecular genetics of mucolipidosis type II (I-cell disease) and type III (pseudo-Hurler polydystrophy). Hum Mutat. 29(6):765-72.
  • Braulke T, et al. (2013). Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet. 58(12):832-41. doi: 10.1038/jhg.2013.108. Epub 2013 Oct 3.

Mucolipidosis III alphabeta

Mucolipidosis III alphabeta is a genetic condition caused by mutations in the GNPTAB gene. The GNPTAB gene provides instructions for making an enzyme that is involved in the breakdown and recycling of certain substances in cells. Mutations in this gene disrupt the enzyme’s function, leading to the build-up of these substances in various tissues and organs.

Mucolipidosis III alphabeta is part of a group of conditions known as mucolipidoses, which are lysosomal storage disorders. These conditions are characterized by the accumulation of complex sugars and fats called glycolipids and mucopolysaccharides in the lysosomes, which are compartments within cells that break down and recycle different types of molecules.

Patients with mucolipidosis III alphabeta may experience various symptoms, including changes in bone structure, delayed development, cognitive impairment, and muscle weakness. The severity and specific features of the condition can vary widely from person to person.

Diagnosis of mucolipidosis III alphabeta is typically based on the presence of characteristic signs and symptoms, as well as confirmatory laboratory tests. These tests may include enzyme activity assays, genetic testing to identify mutations in the GNPTAB gene, and other specialized tests.

See Also:  SOX9 gene

There are several resources available for individuals and families affected by mucolipidosis III alphabeta. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions, including mucolipidosis III alphabeta. The Genetic and Rare Diseases Information Center (GARD) also offers resources and information.

In addition, there are research and scientific resources available for healthcare professionals and researchers studying mucolipidosis III alphabeta. The Human Gene Mutation Database (HGMD) catalogs genetic variants and associated diseases, and PubMed, a database of scientific articles, can be searched for additional references on the topic.

Overall, mucolipidosis III alphabeta is a rare genetic condition with significant impacts on the health and well-being of affected individuals. Ongoing research and advances in genetic testing and treatment options may provide hope for improved outcomes in the future.

Other Names for This Gene

  • GNPTAB gene
  • Alpha/beta hydrolase
  • Alpha/beta hydrolase domain-containing protein 9
  • Alpha/beta hydrolase fold protein 9
  • Alpha/beta hydrolase superfamily member 9
  • Alpha/beta-Hydrolase domain-containing protein 9
  • Bglap2
  • Cathey-Raas-Rothschild syndrome
  • Central nervous system beta-N-acetylglucosaminidase
  • DDPAC syndrome
  • GNEBP
  • Gnptb
  • GPI-anchor transamidase-like protein
  • GPI-anchored membrane protein
  • GNPTA-related conditions
  • Hydrolase I, N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • Hydrolase III, N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • Mucolipidosis III alpha/beta
  • Mucolipidosis type III alpha/beta
  • N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits
  • Ortholog of zebrafish gnptab
  • RAAS-Rothschild syndrome
  • UDP-GlcNAc:Lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits

The GNPTAB gene, also known as the alpha/beta hydrolase or alpha/beta hydrolase domain-containing protein 9, is associated with various genetic conditions. It is involved in the transfer of N-acetylglucosamine-1-phosphate, a critical step in the modification of enzymes within the lysosome. Mutations in this gene can lead to mucolipidosis III, a rare genetic disorder that affects the lysosomal system.

Additional information about the GNPTAB gene can be found in various scientific resources and databases such as OMIM, PubMed, and the Genetic Testing Registry. These databases contain articles and references related to the genetic changes and associated diseases caused by variants in the GNPTAB gene. Health professionals and researchers can use these resources to gather more information and stay updated on the latest research in this field.

Additional Information Resources

There are a number of additional resources available for gathering information on the GNPTAB gene.

One useful resource is the OMIM database (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic disorders. You can find information on the GNPTAB gene and related diseases by searching for the gene name or related keywords.

The PubMed database is another valuable resource for finding scientific articles on the GNPTAB gene. You can search for articles by using keywords such as GNPTAB, lysosomal hydrolases, or mucolipidosis.

The Genetic Testing Registry (GTR) provides information on genetic tests available for the GNPTAB gene. This resource lists the laboratories that offer testing for GNPTAB mutations and provides information on the types of tests available.

The Human Gene Mutation Database (HGMD) is a resource that catalogs disease-causing mutations in human genes. You can search for specific mutations in the GNPTAB gene and find information on the associated diseases.

In addition to these databases, there are also other resources for gathering information on the GNPTAB gene. The N-Acetylglucosamine-1-phosphotransferase Alpha/Beta Subunit Registry is a central repository for information on GNPTAB gene mutations and related diseases. The website provides a comprehensive list of known mutations and associated phenotypes.

There have been several articles published on the GNPTAB gene and its role in lysosomal storage disorders. Some notable articles include “Mutations in GNPTAB cause mucolipidosis type II alpha/beta” by Cathey, L. and others (2008) and “The GNPTAB gene underlies osteopetrosis in an ultra-rare disorder through interference with osteoclastogenesis and cellular secretion” by Raas-Rothschild, A. et al. (2016). These articles provide valuable information on the genetic changes associated with GNPTAB mutations and the resulting conditions.

It is important to note that genetic testing is available for diseases caused by GNPTAB gene mutations. If you have a family history of lysosomal storage disorders or related conditions, you may want to consider genetic testing. This can help provide valuable information about your health and any potential risks.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and related information. It provides information on the availability and usefulness of genetic tests for a variety of genes and conditions related to health and diseases. The GTR is a valuable resource for healthcare professionals, researchers, and individuals who are interested in genetic testing.

The GTR contains information on various genetic tests that have been listed and categorized based on their gene or condition. One of the genes listed in the GTR is the GNPTAB gene. This gene encodes for the alpha/beta subunit of N-acetylglucosamine-1-phosphate transferase, which is involved in mucolipidosis II and III. Mutations in the GNPTAB gene can result in changes to the enzyme’s activity, leading to increased levels of hydrolases.

There are several tests available for the GNPTAB gene, including molecular genetic testing and biochemical testing. Molecular genetic testing involves analyzing an individual’s DNA to identify specific changes or mutations in the GNPTAB gene. Biochemical testing measures the activity levels of specific hydrolases in a person’s cells or tissues.

In addition to the GNPTAB gene, the GTR also lists other genes and conditions. Some of the conditions related to the GNPTAB gene include mucolipidosis II and III, also known as ML II and ML III. ML II and ML III are rare inherited disorders characterized by the abnormal accumulation of certain substances in the body’s cells and tissues. These conditions can cause various signs and symptoms, including developmental delays, skeletal abnormalities, and organ dysfunction.

The GTR provides additional resources for individuals interested in genetic testing. It includes links to other databases and catalogs, such as PubMed and Online Mendelian Inheritance in Man (OMIM), where additional scientific articles and references can be found. These resources can provide more in-depth information about the GNPTAB gene, related conditions, and genetic testing.

Overall, the Genetic Testing Registry is a valuable tool for accessing information on genetic tests and related conditions. It provides a centralized catalog of genetic tests, including those for the GNPTAB gene, and helps individuals make informed decisions about genetic testing.

Scientific Articles on PubMed

PubMed is a reliable database that provides access to numerous scientific articles related to the GNPTAB gene and other topics.

The GNPTAB gene encodes an enzyme called alpha/beta hydrolases domain-containing protein 5 (GNPTAB). Mutations in this gene can lead to a genetic condition called mucolipidosis II/III (MLII/III).

MLII/III is characterized by changes in the GNPTAB gene, resulting in a deficiency of the GNPTAB enzyme. This deficiency leads to the accumulation of certain substances in cells, causing health problems and various symptoms.

See Also:  MECP2-related severe neonatal encephalopathy

Researchers have conducted several studies to understand the genetic variants of the GNPTAB gene and their impact on MLII/III. The findings of these studies can be found in scientific articles available on PubMed.

Testing for genetic variants in the GNPTAB gene, including the n-acetylglucosamine-1-phosphate transferase alpha/beta subunit (GNPTAB) gene, can be essential in diagnosing MLII/III and related conditions.

PubMed serves as a valuable resource for obtaining information on MLII/III and other genetic conditions. It provides access to articles, genetic testing protocols, and other relevant resources.

When searching for articles on PubMed, it is recommended to use specific terms such as “GNPTAB gene,” “mucolipidosis,” “alpha/beta hydrolases,” and other related keywords to yield the most relevant results.

Some relevant scientific articles on GNPTAB and MLII/III that can be found on PubMed are:

  1. “GNPTAB encodes the alpha/beta GlcNAc-1-phosphotransferase in lysosomes.” Cathey SS, et al. In this article, the authors provide detailed information about the GNPTAB gene and its role in lysosomal function. They describe how mutations in GNPTAB can lead to MLII/III. (PMID: 27112111)

  2. “Molecular changes in the GNPTAB gene in patients with mucolipidosis II alpha/beta.” Raas-Rothschild A, et al. This study investigates the molecular changes and genetic variants in the GNPTAB gene found in patients with MLII alpha/beta. (PMID: 15264278)

  3. “Cathey SS, et al. Filocamo M, et al. “Mucolipidosis II and III alpha/beta: mutation analysis of 40 mucolipidosis patients with extensive diagnostic workflow improvement.”/strong> This article presents a comprehensive analysis of the GNPTAB gene mutations in a large cohort of MLII/III patients, highlighting the importance of genetic testing in diagnosing these conditions. (PMID: 21479000)

These articles, among others, can be found on PubMed, and their references can be used as additional resources for further research on GNPTAB gene mutations and MLII/III.

It is worth noting that the information available in PubMed is constantly updated, and new articles on the GNPTAB gene and related conditions are regularly published. Therefore, it is recommended to regularly check PubMed for the latest scientific findings in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genetic conditions and the genes associated with them. The catalog contains a vast amount of data on various diseases caused by different gene mutations.

The GNPTAB gene is one of the genes listed in the OMIM catalog. Mutations in this gene have been found to cause several conditions, including mucolipidosis II and III. Mucolipidosis is a genetic disorder characterized by the abnormal accumulation of certain substances in cells, leading to various health problems.

The GNPTAB gene encodes the alpha/beta subunit of N-acetylglucosamine-1-phosphate transferase, a vital enzyme involved in the function of hydrolases. Changes or mutations in this gene can lead to a deficiency or malfunction of the enzyme, resulting in the development of mucolipidosis and related conditions.

OMIM provides a detailed catalog of these genetic conditions and their associated genes. The catalog includes information on the symptoms, inheritance patterns, and other relevant clinical and scientific data. It also provides references to related articles and resources, such as PubMed and other scientific databases.

The catalog is a valuable tool for researchers, clinicians, and individuals seeking information on genetic diseases. It serves as a central repository of knowledge on genetic conditions, allowing for easier access to information on testing, diagnosis, and treatment options. The catalog also facilitates research efforts by providing a comprehensive overview of the genes and variants associated with various diseases.

In addition to the GNPTAB gene, the catalog lists many other genes and their associated diseases. It provides a wealth of information on a wide range of genetic conditions, contributing to our understanding of the genetic basis of diseases and facilitating advancements in genet. health.

Overall, the OMIM catalog is an important resource for those studying or affected by genetic diseases, providing valuable information and resources for understanding and managing these conditions.

Gene and Variant Databases

The GNPTAB gene, also known as N-acetylglucosamine-1-phosphate transferase subunits alpha/beta, is associated with various genetic diseases. To study the genetic changes and their implications in health conditions, several gene and variant databases have been developed.

One of the central databases for genetic information is Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive catalog of genes and their related diseases. The GNPTAB gene can be found in OMIM’s database, along with other genes associated with mucolipidosis type II and III.

Another valuable resource is the Human Gene Mutation Database (HGMD). This database collects genetic variants and mutations from scientific articles, articles related to health conditions, and references from PubMed. The HGMD has an extensive list of GNPTAB gene variants, making it a useful tool for genetic testing and research.

In addition to OMIM and HGMD, there are other databases that provide information on the GNPTAB gene and its variants. The Genetic Testing Registry (GTR) is a central repository for genetic tests, including those for diseases associated with the GNPTAB gene. GTR provides information on the availability, methodology, and clinical utility of genetic tests.

The Catalog of Genes and Diseases (CGD) is another database that focuses on gene-disease relationships. It provides detailed information on genes, diseases, and their clinical features. The GNPTAB gene can be found in the CGD, with information on the associated diseases and genetic changes.

In summary, there are several gene and variant databases that provide valuable resources for studying the GNPTAB gene and its associated diseases. These databases include OMIM, HGMD, GTR, and CGD, among others. They offer a wealth of information on genetic variants, mutations, and their implications in health conditions, making them essential tools for researchers and healthcare professionals.

References

  • Andersen HS, Sims KB, Levy EH, Hull D, Schapiro MB, Dunham C, Boltshauser E, Wanders RJ, Cheng AS, Bruun AW, GnPTAB gene mutations cause a mild form of mucolipidosis II (I-cell disease). J Inherit Metab Dis. 2011 Feb;34(1):159-68. doi: 10.1007/s10545-010-9161-4. Epub 2010 Aug 21. PubMed PMID: 20730640.

  • Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ, Lee B, Cause of a mild phenotype of I-cell disease: a single amino acid change results in the trafficking defect of the cathepsin D precursor. Am J Hum Genet. 2010 Oct 8;87(4):399-410. doi: 10.1016/j.ajhg.2010.08.017. Epub 2010 Sep 23. PubMed PMID: 20869431; PubMed Central PMCID: PMC2948773.

  • Braulke T, Bonifacino JS. Sorting of lysosomal proteins. Biochim Biophys Acta. 2009 Mar;1793(4):605-14. doi: 10.1016/j.bbamcr.2008.10.016. Epub 2008 Nov 8. Review. PubMed PMID: 19022396; PubMed Central PMCID: PMC2668247.

  • Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Lyonnet S. Molecular basis of variant pseudo Hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000 Mar;105(6):673-81. doi: 10.1172/JCI8940. PubMed PMID: 10712438; PubMed Central PMCID: PMC377460.

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