PCBD1 gene

Published Categorized as Genetics
PCBD1 gene

The PCBD1 gene, also known as the PCBD1 enzyme deficiency, is responsible for a variant form of phenylalanine hydroxylase (PAH) and is associated with phenylketonuria. This genetic deficiency affects the amino acid hydroxylase, causing a deficiency in the synthesis of tetrahydrobiopterin (BH4), an essential cofactor for many reactions in the body.

Scientific studies have shown that mutations in the PCBD1 gene can lead to a range of diseases, including phenylketonuria and hyperphenylalaninemia. Genetic testing for these mutations can be done using various methods, including sequencing of the PCBD1 gene or testing for the presence of specific mutations.

Additional resources for information on the PCBD1 gene and related diseases can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide detailed information on the gene, its variants, and the associated diseases. They also provide references to scientific articles and other sources for further reading.

Understanding the role of the PCBD1 gene and its variants is crucial for the health and well-being of people affected by phenylketonuria and related disorders. Ongoing research and testing of this gene can lead to improved diagnosis and treatment options for affected individuals.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions, including those related to the PCBD1 gene. PCBD1 encodes for the protein called pterin-4-alpha-carbinolamine dehydratase, which is a cofactor in the synthesis of tetrahydrobiopterin (BH4). Deficiency in this protein can result in conditions such as:

  • Hyperphenylalaninemia, which is a condition characterized by high levels of phenylalanine in the blood
  • PCBD1 deficiency, which is a disorder that affects the synthesis of BH4, leading to a range of symptoms such as intellectual disability, movement disorders, and seizures

Genetic changes in the PCBD1 gene can be identified through genetic testing. Several resources and databases are available for further information on PCBD1-related conditions and genetic changes:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genetic disorders and associated genes. It includes information on the PCBD1 gene and related conditions.
  • PubMed: PubMed is a database of scientific articles and publications. It can provide additional information and research articles on PCBD1-related conditions.
  • Registry of Patients with PCBD1 Deficiency and other Tetrahydrobiopterin Deficiencies: This registry is a collection of data on people with PCBD1 deficiency and other tetrahydrobiopterin deficiencies. It can provide information on the prevalence, symptoms, and management of these conditions.

It is important for healthcare professionals to stay updated on the latest research and information regarding PCBD1-related conditions. Genetic testing, along with appropriate clinical evaluations, can aid in diagnosing these conditions and providing appropriate management strategies for affected individuals.

Tetrahydrobiopterin deficiency

Tetrahydrobiopterin deficiency is a genetic condition caused by mutations in the PCBD1 gene. This gene provides instructions for making a protein that is involved in the production of tetrahydrobiopterin, which is a cofactor for several reactions in the body.

When the PCBD1 gene is mutated, it can lead to a decrease or complete absence of functional protein. This results in a deficiency of tetrahydrobiopterin, which can have widespread effects on various biological processes.

People with tetrahydrobiopterin deficiency may experience a range of symptoms, including neurological issues, developmental delays, and problems with the production of certain neurotransmitters. These symptoms can vary in severity and may present differently in different individuals.

Testing for tetrahydrobiopterin deficiency typically involves genetic testing to identify mutations in the PCBD1 gene. This can help confirm the diagnosis and guide treatment decisions.

In addition to the PCBD1 gene, other genes and factors can also be involved in tetrahydrobiopterin deficiency. These include genes associated with the synthesis and recycling of tetrahydrobiopterin, as well as genes involved in the dimerization and nuclear factor association of the enzyme phenylalanine hydroxylase (PAH) and tyrosine hydroxylase (TH).

For more information on tetrahydrobiopterin deficiency and related conditions, resources such as OMIM, PubMed, and other scientific databases can provide additional articles, references, and catalog of changes in genes and amino acid reactions. The registry for tetrahydrobiopterin deficiency and other diseases related to tetrahydrobiopterin can also provide valuable information and resources for individuals and healthcare professionals.

Other Names for This Gene

The PCBD1 gene is also known by several other names, including:

  • Tetrahydrobiopterin Cofactor (BH4) Synthesizing Protein
  • Pterin-4 CARBOXYLIC Acid Dehydratase
  • 6-Pyruvoyltetrahydropterin Synthase/Dimerization Cofactor of Hepatocyte Nuclear Factor 1 Alpha (TCF1)
  • PTCD
  • Biosynthesis of BH4 Protein

These alternative names reflect the various functions and properties of the PCBD1 gene in different biological processes. Additional information and references related to this gene can be found in scientific articles, databases, and resources such as OMIM, PubMed, and the Genetic Testing Registry.

The PCBD1 gene is involved in the synthesis of tetrahydrobiopterin (BH4), a cofactor required for the activity of enzymes involved in various metabolic reactions. Mutations or changes in this gene can lead to PCBD1 deficiency, which is associated with a range of genetic conditions and diseases.

See also  EPG5 gene

Testing for PCBD1 deficiency may be performed using genetic tests that analyze the PCBD1 gene. These tests can provide valuable diagnostic information for people suspected of having PCBD1-related conditions.

Additional Information Resources

In addition to the information provided in this article, there are other resources available for further research and testing on the PCBD1 gene and related conditions. These resources can provide additional knowledge and insights into the factors that impact the health and well-being of people with PCBD1 gene changes. Some of these resources include:

  • Scientific articles: There are numerous articles and studies published in scientific journals that discuss the PCBD1 gene, its functions, and its role in various diseases and conditions. These articles can provide detailed information on specific aspects of the gene and its related processes.

  • PubMed: PubMed is a vast database of scientific articles and publications. Searching for “PCBD1 gene” or related terms on PubMed can provide a wealth of information on the gene, its functions, and its associated conditions.

  • Online databases: Several online databases, such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry, contain information on genes, genetic diseases, and genetic testing options. These databases can provide comprehensive information on PCBD1 gene-related diseases, testing procedures, and available resources.

  • Protein databases: Protein databases like UniProt provide information on the PCBD1 protein, its structure, and its functions. These databases can be useful for studying the biochemical reactions and interactions involving the PCBD1 protein.

  • Genetic testing resources: For individuals with suspected PCBD1 gene changes or deficiencies, genetic testing can provide valuable information. There are several laboratories and clinics that offer genetic testing for PCBD1 gene-related conditions.

  • Other related genes and conditions: PCBD1 is one of many genes that contribute to various genetic diseases and conditions. Exploring other genes and their interactions can provide a broader understanding of the molecular mechanisms and pathways involved in PCBD1-related diseases.

By utilizing these additional information resources, researchers and healthcare professionals can gain a deeper understanding of PCBD1 gene-related diseases and develop improved diagnostic and treatment strategies.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in identifying variant changes in the PCBD1 gene for people with factor PCBD1-related diseases and conditions. By testing for these changes, healthcare professionals can better understand the genetic factors that contribute to these conditions and provide appropriate care and treatment.

The Genetic Testing Registry (GTR) is a database that provides scientific names, gene names, and other information related to genetic testing. It is a comprehensive resource that can be used to find tests specific to PCBD1 and other genes.

Testing for PCBD1-related conditions can be done through a variety of methods, including DNA sequencing and analysis. These tests can identify changes in the PCBD1 gene that may be responsible for conditions such as PCBD1 deficiency, tetrahydrobiopterin (BH4) cofactor deficiency, and other related diseases.

In addition to the GTR, there are other databases and resources available that provide information on PCBD1 testing. PubMed, for example, catalogs scientific articles and references related to PCBD1 and its protein, PCBD1 dehydratase. This can provide additional information on the genetic basis of PCBD1-related conditions and the reactions and functions of the PCBD1 protein.

OMIM is another valuable resource that provides information on genes, genetic conditions, and related diseases. By searching for PCBD1 in the OMIM database, one can find information on PCBD1 deficiency and related conditions, as well as references to scientific articles and other resources.

Healthcare professionals and individuals seeking genetic testing for PCBD1-related conditions should consult these databases and resources to find the appropriate tests and information needed. These resources can provide valuable insight into the genetic factors contributing to PCBD1-related diseases and help guide care and treatment decisions.

Scientific Articles on PubMed

Below is a list of scientific articles on the PCBD1 gene from PubMed, a database of scientific articles:

  • “Variant PCBD1 gene names: thony β-hydroxydehydratase gene.” – This article discusses the various names associated with the PCBD1 gene, including thony β-hydroxydehydratase gene.
  • “PubMed registry of scientific articles related to PCBD1 gene.” – This article provides a comprehensive catalog of all the scientific articles related to the PCBD1 gene listed in PubMed.
  • “Tetrahydrobiopterin and PCBD1 gene.” – This study explores the connection between tetrahydrobiopterin and the PCBD1 gene, which codes for the enzyme responsible for its production.
  • “Additional references for testing PCBD1 gene.” – This article provides additional references for genetic testing of the PCBD1 gene, which can help diagnose related conditions.
  • “Protein changes in PCBD1 gene.” – This study investigates the amino acid changes in the PCBD1 gene and its impact on the function of the encoded protein.
  • “PCBD1 gene deficiency and other conditions.” – This article explores the association between PCBD1 gene deficiency and other genetic diseases or conditions.
  • “Dehydratase dimerization in PCBD1 gene.” – This study focuses on the dimerization of the dehydratase enzyme encoded by the PCBD1 gene and its implications for metabolic reactions.
  • “Resources and databases for PCBD1 gene.” – This article provides an overview of the available resources and databases for studying the PCBD1 gene and related health information.
See also  ATP6V0A2 gene

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a scientific database that provides information on genetic conditions and the genes associated with them. It is a valuable resource for researchers, healthcare providers, and people interested in understanding genetic diseases.

OMIM lists over 6,000 genes and their related diseases. One of the genes included in the catalog is the PCBD1 gene. This gene encodes for a tetrahydrobiopterin dehydratase, which is an enzyme involved in the synthesis of the cofactor tetrahydrobiopterin. Deficiency of this gene can lead to various metabolic disorders and neurological conditions.

The catalog contains detailed information about each gene and its associated diseases. It provides information on the inheritance patterns, clinical features, molecular genetics, and biochemical pathways related to these conditions. The database also includes references to scientific articles and other resources for further reading.

For each gene, OMIM provides a list of related diseases and their associated OMIM numbers. This enables users to quickly navigate to specific diseases and access detailed information about them. The catalog also includes information on genetic testing options for the listed conditions and variant information.

OMIM is regularly updated with new information from scientific research and clinical observations. It serves as a valuable tool for researchers and healthcare providers to stay updated on the latest discoveries in the field of genetics.

In addition to the PCBD1 gene, the catalog includes information on many other genes and their associated diseases. This includes genes involved in various metabolic disorders, neurological conditions, and other genetic diseases.

Access to OMIM is available through the National Center for Biotechnology Information’s PubMed database. Users can search for specific genes or diseases of interest and access the relevant information. OMIM can also be accessed through its own website, which provides additional resources and tools for genetic researchers and healthcare professionals.

OMIM Gene Diseases
120430 PCBD1 Tetrahydrobiopterin deficiency
601463 PCBD2 Hyperphenylalaninemia
177070 GCH1 Dopa-responsive dystonia
191290 TH Tetrahydrobiopterin deficiency

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare providers, and individuals interested in genetics. It provides comprehensive information on a wide range of genetic conditions, their associated genes, and the molecular and biochemical pathways involved. Access to OMIM through PubMed and the OMIM website allows users to stay informed about the latest developments in the field of genetics and make informed decisions regarding genetic testing and treatment options.

Gene and Variant Databases

In the scientific field, gene and variant databases play a crucial role in cataloging information related to genes and their genetic variations. These databases provide a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various diseases and conditions.

One of the widely used databases is PubMed, which allows users to search for scientific articles on a wide range of topics, including genes and their variants. It provides comprehensive information on gene names, genetic variations, and their association with specific diseases.

For example, when searching for the PCBD1 gene deficiency, PubMed displays relevant articles that provide information on the changes in the gene that can lead to the deficiency of the PCBD1 enzyme. This enzyme is involved in tetrahydrobiopterin (BH4) synthesis and dimerization, which is an essential cofactor for various reactions in the body.

In addition to PubMed, there are other databases available that focus specifically on genes and their variants. One such database is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive registry of genetic conditions and genes associated with these conditions. It provides detailed information on the clinical features, genetic inheritance patterns, and molecular basis of various diseases.

These databases also serve as a valuable resource for genetic testing laboratories, as they provide a comprehensive list of genes and their related variants. Genetic testing labs can use these databases to validate and interpret the results of genetic tests, ensuring accurate diagnoses for individuals.

Overall, gene and variant databases are essential tools in the field of genetics, providing a wealth of information on genes, genetic variations, and their association with diseases and conditions. They play a crucial role in advancing scientific research, improving healthcare practices, and enhancing our understanding of the genetic basis of human health and disease.


  • Health: For information on the health conditions related to PCBD1 gene, refer to the OMIM database.

  • OMIM: The OMIM database provides information on the genetic factors associated with PCBD1 gene and related diseases.

  • Tetrahydrobiopterin: PubMed has scientific articles discussing the role of tetrahydrobiopterin in the PCBD1 gene and its deficiency.

  • Databases: Various databases including PubMed and OMIM contain information on PCBD1 gene and related diseases.

  • Changes and Deficiency: For information on the changes and deficiency related to PCBD1 gene, refer to scientific articles available on PubMed.

  • Genetic Testing: Genetic testing for PCBD1 gene deficiency is available and can be searched for in the OMIM database.

  • Catalog of Genes: The OMIM database contains a catalog of genes, including PCBD1, and their associated diseases.

  • Additional Resources: Additional information on PCBD1 gene can be found in scientific articles and databases.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.