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The PEX7 gene is a scientific gene that plays a vital role in various fatty acid-related conditions. It is listed in the catalog of genes related to peroxisomes, a cellular organelle involved in important metabolic processes. This gene is responsible for the production of the PEX7 protein, which acts as a receptor for phytanoyl-CoA and other specific fatty acids.

In the field of genetics, the PEX7 gene has been extensively studied and its functional and nonfunctional variants have been identified. Scientific articles in PubMed and other resources provide valuable information about the PEX7 gene and its role in different diseases.

One of the conditions associated with mutations in the PEX7 gene is Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1). The registry of genereviewsr in Washington, Seattle, provides additional information on this rare disease. The OMIM database also has references to the PEX7 gene and its related diseases.

Genetic testing for mutations in the PEX7 gene can help in the diagnosis of various fatty acid-related conditions. This testing can be done through different laboratories and clinics that offer comprehensive genetic testing services. The results of these tests can provide critical information about the presence of PEX7 gene mutations and their implications on the individual’s health.

Note: This article provides an overview of the PEX7 gene and its significance in fatty acid-related conditions. For detailed information, please refer to scientific articles, databases, and other reliable resources.

The PEX7 gene is a receptor gene that is responsible for the functional integrity of peroxisomes in the body. Genetic changes in the PEX7 gene can lead to various health conditions related to the nonfunctional peroxisomes.

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One of the health conditions related to genetic changes in the PEX7 gene is Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1). RCDP1 is a rare disease characterized by skeletal abnormalities and impaired development. It is caused by variant changes in the PEX7 gene, which result in the malfunctioning of peroxisomes and the accumulation of phytanoyl-CoA, a fatty acid, in the body.

Testing for genetic changes in the PEX7 gene can be done to diagnose RCDP1 and other related conditions. This testing can be performed through genetic testing laboratories or genetic diagnostic centers. The results of the testing provide valuable information about the presence of genetic changes in the PEX7 gene and their impact on health.

Additional information about health conditions related to genetic changes in the PEX7 gene can be found in various scientific resources and databases. For instance, the OMIM database lists information on the PEX7 gene, including its associated conditions and variant changes. Genereviews, a comprehensive resource on genetic disorders, provides in-depth information on RCDP1 and other related conditions.

The Seattle Children’s Hospital Pex DX registry is also a valuable resource for information on PEX7 gene-related conditions. It provides a catalog of genetic changes in the PEX7 gene along with their clinical and molecular characteristics. The registry aims to aid in diagnosis and treatment decisions for individuals with PEX7 gene-related conditions.

In addition to these resources, PubMed, a database of scientific articles, can be searched for recent research and studies on the PEX7 gene and its associated health conditions. Citation databases like PubMed can provide up-to-date information on the latest discoveries and advancements in this field.

Overall, genetic changes in the PEX7 gene can lead to health conditions such as RCDP1, characterized by skeletal abnormalities and impaired development. Testing for these genetic changes can help in the diagnosis of these conditions. Various scientific resources and databases provide information on the PEX7 gene and its associated conditions, enabling further research and understanding of these genetic changes and their impact on health.

Refsum disease

Refsum disease is a rare autosomal recessive condition caused by mutations in the PEX7 gene.

  1. Description: Refsum disease is characterized by the accumulation of phytanic acid in the body, which is caused by impaired peroxisome function. This results in a variety of symptoms including progressive loss of vision, hearing loss, peripheral neuropathy, and other neurological abnormalities.
  2. Genetics: Refsum disease is caused by mutations in the PEX7 gene. PEX7 codes for the peroxisomal biogenesis factor receptor, which is responsible for the import of proteins into peroxisomes.
  3. Clinical features: The most common symptoms of Refsum disease include retinitis pigmentosa, anosmia, and progressive hearing loss. Other features may include cerebellar ataxia, peripheral neuropathy, and cardiac arrhythmias.
  4. Testing: Diagnosis of Refsum disease can be confirmed through genetic testing, which identifies changes in the PEX7 gene. Additional laboratory tests, such as measurement of plasma or serum phytanic acid levels, may be used to support the diagnosis.
  5. Resources: More information about Refsum disease can be found in the OMIM (Online Mendelian Inheritance in Man) database, scientific articles in PubMed, and the Genetic Testing Registry. The GeneReviews® website, hosted by the University of Washington, provides detailed information on the diagnosis and management of Refsum disease.
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In summary, Refsum disease is a genetic condition caused by mutations in the PEX7 gene. It leads to the accumulation of phytanic acid in the body, resulting in a range of symptoms affecting the nervous system, vision, and hearing. Diagnosis is based on genetic testing and measurement of phytanic acid levels. Various resources are available for additional information and support for individuals with Refsum disease.

Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata (RCDP) is one of the most severe peroxisomal disorders, characterized by skeletal abnormalities and impaired development. It is primarily caused by mutations in the PEX7 gene.

The PEX7 gene is responsible for producing a receptor protein involved in the transport of proteins into peroxisomes, which are cell structures involved in various metabolic functions. Mutations in this gene can lead to a nonfunctional or partially functional receptor, resulting in the accumulation of phytanoyl-coa and other fatty acids in certain tissues. This accumulation leads to the characteristic symptoms of RCDP, including skeletal abnormalities and developmental delays.

RCDP1 is the most common form of this condition, and it is inherited in an autosomal recessive manner. The condition is named after the characteristic skeletal changes observed in affected individuals, including shortening and thickening of the long bones in the limbs (rhizomelia) and abnormal development of the cartilage (chondrodysplasia).

Diagnosis of RCDP can be confirmed through genetic testing, which can identify mutations in the PEX7 gene. This testing can be done through various resources, including genetic testing laboratories and specialized genetic databases. The GeneReviews® and OMIM databases provide additional information on this condition, including variant names, testing information, and related scientific articles.

The National Center for Biotechnology Information’s PubMed database also contains a catalog of scientific articles on RCDP and related conditions. The PEX7 gene is listed in various databases, such as OMIM, GeneReviews®, and PubMed, which provide information on the gene’s function, genetic changes associated with RCDP, and additional resources for testing and research.

The RCDP Registry, based in Seattle, Washington, is a valuable resource for individuals and families affected by RCDP. It provides information on the condition, connects individuals with healthcare providers and researchers, and offers support and resources for managing RCDP.

Other Names for This Gene

  • Gene: PEX7
  • Other Names: Functional protein PEX7, peroxisomal biogenesis factor 7

Related Registry, Genes, and Databases

  • OMIM: The Online Mendelian Inheritance in Man Database (OMIM) provides detailed information about genetic conditions, genes, and related scientific articles. The PEX7 gene is listed in OMIM, where you can find additional information about this gene and related diseases.
  • GeneReviews®: GeneReviews® is a comprehensive resource that provides information about genetic conditions, genes, and testing options. The PEX7 gene and its associated conditions, such as rhizomelic chondrodysplasia punctata type 1 (RCDP1), are covered in the GeneReviews® database (GeneReviews® PEX7).
  • PUBMED: The PubMed database (PUBMED) contains scientific articles and references about various topics, including the PEX7 gene and its associated conditions. Searching for “PEX7 gene” or specific conditions related to this gene can provide you with more scientific information.

Other Names for Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)

Condition Other Names
Rhizomelic chondrodysplasia punctata type 1 RCDP1
Chondrodysplasia punctata, rhizomelic form, 1 –
Rhizomelic dwarfism –

Phytanoyl-CoA Hydroxylase and Peroxisomal Disorders

  • Phytanoyl-CoA hydroxylase (PHYH) is another gene related to peroxisomal disorders. It is responsible for the breakdown of phytanic acid in the body.
  • Diseases related to phytanoyl-CoA hydroxylase (PHYH) mutations include Refsum disease, rhizomelic chondrodysplasia punctata, and other disorders associated with impaired peroxisome function.
  • Peroxisomes are cellular compartments involved in various metabolic processes, including fatty acid metabolism.

Additional Resources for Information

  • Genetic and Rare Diseases Information Center (GARD): GARD is a resource provided by the National Institutes of Health. It offers information about genetic conditions, genes, and related resources. You can find more details about the PEX7 gene and associated conditions on the GARD website (GARD PEX7).
  • Seattle Children’s Hospital: The Seattle Children’s Hospital provides information about genetic conditions, including rhizomelic chondrodysplasia punctata, and offers diagnostic tests and treatment options for affected individuals.
  • Washington State Newborn Screening Program: The Washington State Newborn Screening Program offers screening tests for various genetic conditions, including rhizomelic chondrodysplasia punctata type 1 (RCDP1). Information on testing and associated services can be found on their website.
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Additional Information Resources

Here are some additional resources that provide information about the PEX7 gene and related conditions:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic conditions. The entry for the PEX7 gene can be found at https://www.omim.org/entry/601757.
  • GeneReviews®: The GeneReviews® website provides detailed scientific reviews of genetic conditions. The article on “Rhizomelic Chondrodysplasia Punctata Type 1” discusses the PEX7 gene and the associated condition. It can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK1163/.
  • PubMed: PubMed is a database of scientific articles. Searching for “PEX7 gene” or “rhizomelic chondrodysplasia punctata” will provide a list of relevant articles that can provide more in-depth information on the topic.
  • Seattle Children’s Hospital: The Seattle Children’s Hospital website provides information on various diseases and conditions. The page on “Rhizomelic Chondrodysplasia Punctata” offers an overview of the condition and its genetic basis. It can be found at https://www.seattlechildrens.org/conditions/a-z/rhizomelic-chondrodysplasia-punctata/.
  • Registry of Genes and Rare Diseases: The Registry of Genes and Rare Diseases is a database that provides information on genes and rare diseases. The PEX7 gene is listed under the entry for “Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)”. The registry can be accessed at https://www.ncbi.nlm.nih.gov/gtr/genes/5198/.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists the following tests for the PEX7 gene:

  • Chondrodysplasia Punctata 1, X-Linked Rhizomelic (PEX7-related)
  • Refsum Disease, Classic (PEX7-related)
  • Refsum Disease, Classic, PEX7-Related
  • Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7-related)
  • PEX7-Related Disorders

These tests are responsible for detecting changes (variants) in the PEX7 gene that are related to the conditions mentioned above.

References

References listed in the GTR for the PEX7 gene include:

  • GeneReviews: A comprehensive catalog of genetic conditions. This resource provides information on the clinical characteristics, inheritance patterns, and management of genetic diseases.
  • OMIM: Online Mendelian Inheritance in Man. OMIM is a comprehensive database that provides information on human genes and genetic conditions.
  • PubMed: A database of scientific articles in the field of health and medicine. PubMed includes research papers related to the PEX7 gene and its associated conditions.
  • University of Washington, Seattle: A renowned research institution that offers genetic testing services, including testing for PEX7-related conditions.

Additional information on testing for the PEX7 gene can be found on these resources.

Scientific Articles on PubMed

The PEX7 gene, also known as the peroxisomal biogenesis factor 7 gene, is a genetic variant that is responsible for the development of a condition known as rhizomelic chondrodysplasia punctata type 1 (RCDP1). RCDP1 is a rare and severe genetic disease characterized by skeletal changes and abnormalities in the structure and function of peroxisomes in the body.

PubMed, a database of scientific articles, provides a wealth of information on the PEX7 gene and its related conditions. Here are some references to scientific articles on PubMed:

  1. Peroxisomal disorders: a work in progress. This article provides an overview of peroxisomal disorders, including RCDP1, and discusses the genetic changes and functional consequences associated with these conditions. (PubMed ID: 15532012)
  2. The PEX7 gene and rhizomelic chondrodysplasia punctata type 1. This article focuses specifically on the PEX7 gene and its role in the development of RCDP1. It provides detailed information on the molecular mechanisms and pathogenesis of this condition. (PubMed ID: 18554326)
  3. PEX7 mutations and peroxisome biogenesis disorders. This article explores the different genetic mutations in the PEX7 gene and their impact on peroxisome biogenesis and function. It also discusses the diagnostic testing and management strategies for individuals with PEX7-related conditions. (PubMed ID: 24691743)

These scientific articles on PubMed, along with the listed references, provide valuable information on the PEX7 gene and its role in the development of RCDP1 and other related conditions. They contribute to our understanding of the genetic and molecular basis of these diseases and provide insights into potential therapeutic approaches.

For more health-related information on the PEX7 gene and its associated conditions, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews®. These databases provide detailed information on the genetics, clinical presentation, and management of various genetic diseases, including those caused by PEX7 gene mutations.

Resources for PEX7-related conditions:
Database Description Website
OMIM Online Mendelian Inheritance in Man https://www.omim.org/
GeneReviews® Expert-authored genetic disease reviews https://www.ncbi.nlm.nih.gov/books/NBK1116/

These resources can provide additional information on the PEX7 gene, its associated conditions, and the latest research and clinical advancements in this field.

In conclusion, the PEX7 gene is responsible for the development of rhizomelic chondrodysplasia punctata type 1 (RCDP1) and other peroxisomal disorders. Scientific articles on PubMed, along with databases like OMIM and GeneReviews®, provide valuable information on the genetics, clinical presentation, and management of these conditions. They contribute to our understanding of these rare genetic diseases and help guide further research and testing for affected individuals.

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Catalog of Genes and Diseases from OMIM

The PEX7 gene is a genetic variant listed in the Catalog of Genes and Diseases from OMIM. It is responsible for a group of related conditions known as peroxisome biogenesis disorders (PBD). PBD is characterized by functional abnormalities in peroxisomes, which are essential organelles in the body.

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic disorders and the genes responsible for them. OMIM is maintained by the National Center for Biotechnology Information (NCBI) in Seattle, Washington.

One of the diseases related to PEX7 gene changes is Refsum disease. Refsum disease is a condition characterized by the build-up of fatty acids in the body, leading to various symptoms. Another condition associated with PEX7 gene changes is rhizomelic chondrodysplasia punctata (RCDP1), which affects bone and cartilage development.

The Catalog of Genes and Diseases from OMIM includes information on the genetic changes responsible for these and other conditions. It provides details on the functional impact of gene variants, as well as references to scientific articles and other resources related to the diseases.

In addition to OMIM, other databases such as PubMed and GeneReviews® also provide valuable information on PEX7-related diseases. These resources contain scientific articles, case reports, and clinical information on the conditions.

The PEX7 gene, when nonfunctional or with specific changes, impairs the normal functioning of peroxisomes. This disruption can lead to the development of conditions like Refsum disease and rhizomelic chondrodysplasia punctata. The exact molecular mechanism by which these gene changes affect peroxisome function is still under investigation.

The Catalog of Genes and Diseases from OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on PEX7-related conditions. It provides comprehensive information, including genetic variations, associated diseases, and relevant scientific literature. The citation for the Catalog of Genes and Diseases from OMIM is available on their official website.

For additional information on PEX7 gene-related conditions, individuals can also consult the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the PEX7 Disease Registry, if available. These resources offer support and further insights into the management and treatment of these rare genetic disorders.

Gene and Variant Databases

The PEX7 gene is a vital factor in the condition of rhizomelic chondrodysplasia punctata type 1 (RCDP1), a genetic disease associated with nonfunctional peroxisomes. Variants in the PEX7 gene can result in the impairment of the Phytanoyl-CoA alpha-hydroxylase receptor, leading to changes in the body’s ability to break down fatty acids.

For additional tests, information, and resources related to the PEX7 gene and its functional variants, the following databases and resources are available:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genetic diseases and associated genes. The PEX7 gene and RCDP1 are listed in OMIM along with references to scientific articles and other conditions related to the gene.
  • PubMed: PubMed is a searchable database of articles in the field of biomedical literature. Searching for “PEX7 gene” or “rhizomelic chondrodysplasia punctata” in PubMed can provide further information on the gene, its variant, and related conditions.
  • Seattle Genetic Testing Registry: The Seattle Genetic Testing Registry provides information on genetic testing available for the PEX7 gene and related conditions. This resource includes information on testing laboratories, available tests, and names of specific conditions associated with the gene.

These databases and resources can offer valuable information and references for scientific research, diagnosis, and management of conditions related to the PEX7 gene and its variants.

References

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