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Reviewed July 2011
What is the official name of the PCBD1 gene?
The official name of this gene is “pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha.”
PCBD1 is the gene's official symbol. The PCBD1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PCBD1 gene?
The PCBD1 gene provides instructions for making an enzyme called pterin-4 alpha-carbinolamine dehydratase. This enzyme helps carry out one step in the chemical pathway that recycles a molecule called tetrahydrobiopterin (BH4).
Tetrahydrobiopterin plays a critical role in processing several protein building blocks (amino acids) in the body. For example, it works with the enzyme phenylalanine hydroxylase to convert an amino acid called phenylalanine into another amino acid, tyrosine. Tetrahydrobiopterin is also involved in reactions that produce chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Because it helps enzymes carry out chemical reactions, tetrahydrobiopterin is known as a cofactor.
When tetrahydrobiopterin interacts with enzymes during chemical reactions, the cofactor is altered and must be recycled to a usable form. Pterin-4 alpha-carbinolamine dehydratase is one of two enzymes that help recycle tetrahydrobiopterin in the body.
How are changes in the PCBD1 gene related to health conditions?
Where is the PCBD1 gene located?
Cytogenetic Location: 10q22
Molecular Location on chromosome 10: base pairs 70,882,279 to 70,888,783
The PCBD1 gene is located on the long (q) arm of chromosome 10 at position 22.
More precisely, the PCBD1 gene is located from base pair 70,882,279 to base pair 70,888,783 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PCBD1?
You and your healthcare professional may find the following resources about PCBD1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PCBD1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PCBD1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.