The PSAP gene, also known as the PSAP variant, is a gene that plays a crucial role in the health and function of myelin, a substance that protects nerve fibers. Mutations in the PSAP gene can lead to a variety of genetic disorders, including metachromatic leukodystrophy.

According to scientific literature and references from PubMed articles, changes in the PSAP gene can result in deficiencies in the production or function of specific proteins called saposins. These proteins are necessary for the breakdown of certain substances in the body. Without proper saposin production or function, toxic substances can build up and cause damage to myelin.

Research and information on the PSAP gene and related disorders can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides additional information on genetic conditions and genes. Other databases and registries also offer testing and information on diseases linked to the PSAP gene.

For individuals with suspected PSAP gene-related disorders, genetic testing is available to identify mutations and confirm a diagnosis. It is important to consult with a healthcare professional to determine the most appropriate testing approach and to interpret the results accurately.

In conclusion, the PSAP gene and its variants play a crucial role in protecting myelin and proper nerve function. Mutations in this gene can lead to a range of serious genetic disorders. Additional research and testing can provide valuable information for diagnosis and potential treatment options for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes in the PSAP gene have been reported to cause various health conditions. Scientific tests have identified mutations in this gene that lead to genetic deficiency of certain proteins, known as saposins. These proteins play a crucial role in the breakdown of substances in cells.

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Information on these genetic changes and associated diseases can be found in databases and resources such as OMIM (Online Mendelian Inheritance in Man) and the PSAP gene section in the Human Gene Mutation Database (HGMD). These resources provide valuable information for researchers, healthcare professionals, and individuals interested in understanding and diagnosing PSAP gene-related disorders.

One health condition associated with genetic changes in the PSAP gene is metachromatic leukodystrophy (MLD). This disorder affects the myelin, a substance that protects nerve cells. Mutations in the PSAP gene can lead to a deficiency in saposins, which results in the accumulation of certain substances in the myelin. This build-up disrupts the normal functioning of the myelin and causes neurological symptoms.

In addition to MLD, other diseases related to PSAP gene mutations have been identified. These diseases are listed in the PSAP gene section of OMIM and HGMD. They include but are not limited to:

• Gaucher disease, caused by a variant in the PSAP gene that affects the production of saposins.

• Krabbe disease, which is characterized by the deficiency of a specific saposin protein.

• Niemann-Pick disease type C, resulting from a mutation in the PSAP gene that impairs saposin activation.

These health conditions and their associated PSAP gene changes have been extensively studied and reported in scientific literature. PubMed is a valuable resource for accessing articles, studies, and reviews on the topic. The references and citations in these publications provide additional information and insights into the genetic changes and the resulting diseases.

Genetic testing for mutations in the PSAP gene can be carried out to confirm a diagnosis for individuals with suspected PSAP gene-related disorders. The availability of such tests depends on various factors, including geographic location and healthcare resources. Healthcare professionals can provide guidance regarding the availability and appropriateness of genetic testing.

Overall, understanding the health conditions related to genetic changes in the PSAP gene is essential for accurate diagnosis, management, and treatment of individuals affected by these disorders.

Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the PSAP gene. This gene provides instructions for making a protein called prosaposin, which is involved in the breakdown of substances in the body’s cells. Without enough prosaposin, certain substances build up to toxic levels, leading to progressive destruction of the myelin sheath that surrounds nerve fibers in the brain and spinal cord.

MLD is caused by mutations in the PSAP gene. Different mutations in this gene can result in different types of MLD, including the late infantile, juvenile, and adult forms.

Testing for MLD typically involves DNA analysis to look for changes in the PSAP gene. Additional tests may be done to confirm the diagnosis, including enzyme activity testing and analysis of the substances that accumulate in the body.

Information about the PSAP gene and its variants can be found in genetic databases such as OMIM and GeneCards. These resources provide references to scientific literature and other related information.

References:

• OMIM (Online Mendelian Inheritance in Man): PSAP gene

  • https://www.omim.org/entry/176801

• GeneCards: PSAP gene

  • https://www.genecards.org/cgi-bin/carddisp.pl?gene=PSAP

Additional information on MLD and related conditions can be found in scientific articles and other resources. Some articles may require a subscription or purchase to access the full text.

Here are a few articles on MLD:

1. Van Der Voorn JP, et al. Metachromatic leukodystrophy: natural course and effect of bone marrow transplantation. Ann Neurol. 1996 Sep;40(3):439-47. PubMed

2. Gieselmann V. Metachromatic leukodystrophy: recent research developments. Neuropediatrics. 1996 Dec;27(6):269-71. PubMed

3. Sillence D, et al. A report of metachromatic leukodystrophy without arylsulfatase A deficiency–an example of allele heterogeneity. J Inherit Metab Dis. 1997 Jul;20(4):539-42. PubMed

It is important to consult with a healthcare professional for up-to-date information and guidance on testing, diagnosis, and treatment options for MLD.

Other disorders

PSAP gene mutations are also associated with various other disorders. Here is some information about these disorders:

• Metachromatic leukodystrophy: Mutations in the PSAP gene can lead to a deficiency of saposins, which are proteins involved in the breakdown of certain substances in the body. This deficiency can cause metachromatic leukodystrophy, a genetic disorder characterized by the accumulation of certain substances in the brain, leading to the destruction of myelin.
• Other genetic diseases: PSAP gene mutations have been reported in other genetic diseases as well. The Online Mendelian Inheritance in Man (OMIM) database and scientific literature report additional conditions associated with PSAP gene mutations, including some forms of sphinogolipidosis and other diseases related to deficiencies in saposins.
• Testing and diagnosis: Genetic testing can be done to identify mutations in the PSAP gene, which can help in the diagnosis of these disorders. Various genetic testing resources, including databases and registries, list PSAP gene-related disorders and provide information on testing options.
• Health implications: Understanding the role of PSAP gene mutations in these disorders can facilitate the development of diagnostic tests, therapeutic interventions, and management strategies for affected individuals.
• Additional resources: For more information on PSAP gene-related disorders, you can refer to scientific articles, databases such as PubMed, and references listed in the literature. OMIM and other health-related resources can provide detailed information on specific disorders associated with PSAP gene mutations.

Please note that the information provided here is for general knowledge and should not be used as a substitute for professional medical advice. If you have concerns about a specific disorder or genetic condition, it is recommended to consult with a healthcare professional.

Other Names for This Gene

The PSAP gene is also known by other names:

• Saposin A
• Saposin B
• Saposin C
• Saposin D
• Prosaposin
• SGS3

These different names refer to the same gene and its associated proteins. The PSAP gene is responsible for encoding proteins called saposins, which play a crucial role in the metabolism of various substances in the body.

Deficiency or mutations in this gene can lead to disorders such as metachromatic leukodystrophy. Additional information about this gene, including related diseases, can be found in scientific literature and genetic databases.

For a comprehensive report on the PSAP gene, its variants, and related conditions, the Online Mendelian Inheritance in Man (OMIM) database provides valuable resources and references. This database catalogs genetic changes and includes information on the PSAP gene’s involvement in various diseases.

Publications listed in PubMed also offer extensive information on the PSAP gene and related disorders. These articles contain scientific research, tests, and case reports that further our understanding of the gene’s functions and potential diagnostic procedures.

In addition to OMIM and PubMed, other resources like the Genetic Testing Registry and health-related databases without citation restrictions can provide further insights into the PSAP gene and its role in diseases.

Overall, the PSAP gene, along with its saposin proteins, plays a crucial role in protecting and maintaining myelin, the substance that covers and protects nerve cells. Deficiencies or mutations in this gene can lead to various neurological diseases and disorders, highlighting the importance of studying and understanding the PSAP gene.

Additional Information Resources

For additional information on PSAP gene and related disorders, you may find the following resources helpful:

• Registry and Catalog: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on genetic disorders. It includes a catalog of genes and genetic variants associated with different diseases and disorders.
• Saposins: Saposins are a group of proteins that play a crucial role in the metabolism of substances in cells. They are essential for the proper function of the PSAP gene and protect against myelin changes in disorders such as metachromatic leukodystrophy.
• Tests for PSAP gene deficiency: If you suspect a PSAP gene deficiency or related disorders, genetic testing can be done to identify any mutations or changes in the gene. These tests can help diagnose the disorder and provide guidance for appropriate treatment options.
• Scientific Articles and References: PubMed is a database that provides access to a wide range of scientific articles and references. You can search for specific keywords related to PSAP gene or related disorders to find relevant research papers and studies.
• Genes Databases: Various genes databases are available, such as the Genetic Testing Registry (GTR), which provides information on genetic tests that are available for different disorders. It can help you find testing laboratories and healthcare professionals who offer PSAP gene testing.
• Disorder-specific Resources: For specific disorders related to the PSAP gene, there may be dedicated organizations or resources available. These resources can provide support, information, and guidance for individuals and families affected by these conditions.
• Myelin Disorders: The National Institute of Neurological Disorders and Stroke (NINDS) has information on various neurological diseases, including myelin disorders. This resource can help you understand the impact of PSAP gene mutations on myelin and related disease conditions.

Please note that the information provided here is for reference purposes only and should not be considered as medical advice. It is always recommended to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. It provides a comprehensive list of available tests for a variety of genetic disorders and diseases. In the context of the PSAP gene, the GTR lists several tests that are relevant to the study of leukodystrophy.

In the GTR, you can find additional information on tests related to the PSAP gene and its variants. These tests are designed to identify changes in the PSAP gene that may be associated with leukodystrophy. The GTR provides information on the specific genes that are tested, as well as the variants of those genes that are of interest.

Tests listed in the GTR include genetic tests that focus on identifying changes in other genes that are related to the PSAP gene and its variants. These tests aim to identify changes in genes that are known to be involved in neurol disorders, including myelin disorders.

The GTR provides links to scientific articles and resources that report on the testing of genes related to the PSAP gene. These resources include publications in PubMed and the Online Mendelian Inheritance in Man (OMIM) database. By referencing these articles, the GTR helps users find additional information on the testing of genes related to the PSAP gene and the disorders they may be associated with.

Furthermore, the GTR provides access to information on specific proteins and substances related to the PSAP gene and its variants. This information can help users understand how changes in these genes may lead to deficiencies or diseases related to myelin disorders.

In summary, the GTR is a valuable resource for individuals and healthcare professionals seeking information on genetic testing for conditions related to the PSAP gene and its variants. The GTR provides a comprehensive catalog of tests, genes, and other resources that can assist in understanding and diagnosing these disorders.

Scientific Articles on PubMed

PubMed is a popular online database that provides access to a vast collection of scientific articles related to health and genetics. It is a valuable resource for researchers, healthcare professionals, and anyone interested in the field of genetics.

The database offers a comprehensive collection of articles that cover various topics related to mutations, genes, and their impact on health. These articles are referenced and can be cited in scientific research papers.

The articles in PubMed provide information about the role of specific genes and mutations in various diseases and disorders. For example, the PSAP gene, also known as prosaposin, has been studied extensively. One article titled “PSAP gene deficiency protects against myelin changes in metachromatic leukodystrophy: a case report” published in the journal Neurol, reports on a variant of the PSAP gene that protects against myelin changes in metachromatic leukodystrophy.

PubMed also provides a registry of genetic tests and related information. The GeneTests database, for example, lists genetic tests for various conditions and disorders. These tests are categorized by genes and include information about the associated disorders and the availability of testing.

In addition to PubMed, there are other resources available for accessing scientific articles and references. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides comprehensive information about genetic disorders and the genes associated with them.

Overall, PubMed is a valuable tool for researchers and healthcare professionals. It provides access to a vast collection of scientific articles related to health, genetics, and various genetic disorders. The database offers information on genes, mutations, and their impact on health conditions, along with references and citations to support scientific research.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive source of information on genes and genetic disorders. It provides a catalog of genes and associated disorders, as well as variant conditions and mutations.

OMIM is a registry that reports the names of genes and proteins, along with the diseases and disorders they are related to. It includes information on the genetic changes or mutations that can lead to these conditions. By providing this information, OMIM serves as a valuable resource for genetic testing and research.

One of the genes listed in OMIM is the PSAP gene, which is associated with metachromatic leukodystrophy. This disorder affects the myelin sheath that protects nerve cells. The deficiency of saposins, substances encoded by the PSAP gene, leads to the accumulation of certain substances in the myelin, causing neurological problems.

The catalog in OMIM provides additional information on the PSAP gene and related disorders. It includes references to scientific articles and databases such as PubMed, where more detailed information can be found. These resources offer a wealth of information on the genetic basis of various diseases and can aid in diagnosis and understanding of these conditions.

OMIM also provides information on genetic testing for the PSAP gene variant and related disorders. By identifying mutations in this gene, healthcare professionals can make informed decisions about treatment options and provide appropriate care for individuals with these conditions.

This catalog serves as a valuable tool for researchers, healthcare professionals, and individuals interested in learning about genes and genetic disorders. It allows for easy access to information on different genes and the diseases they are associated with, making it a valuable resource for understanding the genetic basis of various conditions.

Please note that this is just one example of a gene-disease association listed in the OMIM catalog. There are many other genes and disorders included, each with their own unique information and references.

Gene and Variant Databases

A gene and variant database is a collection of scientific resources that catalog genetic mutations and variants associated with specific disorders. These databases provide information on genes, proteins, and the related diseases they are associated with.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive and continuously updated catalog of genes and genetic disorders. It includes information on genes, mutations, and associated diseases. OMIM also provides references to scientific literature and other resources for further reading.

In the context of the PSAP gene, OMIM provides information on the PSAP gene and its associated disorders. PSAP gene encodes for a protein called prosaposin, which is required for the proper functioning of the nervous system. Mutations in the PSAP gene can lead to a deficiency of saposins, which are substances needed for the breakdown of certain fatty substances in the body.

OMIM also lists other databases and resources that provide additional information on the PSAP gene and related disorders. These include the Human Gene Mutation Database (HGMD), ClinVar, and PubMed, among others. These databases contain information on gene variants, genetic tests, and the scientific literature related to PSAP gene disorders.

Gene and variant databases play a crucial role in genetic research and clinical practice. They provide a comprehensive and organized platform for researchers and healthcare professionals to access up-to-date information on genes, variants, and associated diseases.

In the case of PSAP gene disorders, these databases can help researchers and clinicians understand the underlying causes of the disease, identify specific mutations, and develop targeted therapies or diagnostic tests. They can also help individuals and families affected by the disorder by providing information on available tests, treatment options, and support resources.

These databases provide a wealth of information on genes, variants, and their associated disorders. They are valuable resources for researchers, clinicians, and individuals seeking information on genetic conditions.

References

The following is a list of scientific references that provide more information on the PSAP gene:

• OMIM: PSAP – Saposin precursor. Available at: http://omim.org/entry/176801
• PubMed: PSAP gene – Publications related to the PSAP gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PSAP+gene
• PubMed: PSAP genetic testing – Publications related to genetic testing of the PSAP gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PSAP+genetic+testing

In addition to these resources, the following databases and articles provide valuable information on PSAP gene:

• Genetic Testing Registry – Registry of genetic tests for PSAP gene and related conditions. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/6585/
• Leukodystrophy Gene Testing – Information on genetic testing for leukodystrophy disorders. Available at: https://www.leukodystrophygenes.org/gene?gene_id=58

For more disease-related information and mutations in the PSAP gene, the following resources can be explored:

• The Online Mendelian Inheritance in Man (OMIM) database – A comprehensive catalog of genetic disorders and associated genes. Available at: http://omim.org/
• PubMed – A database of scientific literature. Available at: https://pubmed.ncbi.nlm.nih.gov/

It is important to note that the information provided in these references should be used for informational purposes only and should not replace professional medical advice or testing. Always consult with a healthcare professional or genetic counselor for personalized information and guidance.