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Genetics Home Reference: your guide to understanding genetic conditions
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CYP2C19

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CYP2C19 gene?

The official name of this gene is “cytochrome P450, family 2, subfamily C, polypeptide 19.”

CYP2C19 is the gene's official symbol. The CYP2C19 gene is also known by other names, listed below.

What is the normal function of the CYP2C19 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1557):

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P33261):

Responsible for the metabolism of a number of therapeutic agents such as the anticonvulsant drug S-mephenytoin, omeprazole, proguanil, certain barbiturates, diazepam, propranolol, citalopram and imipramine.

NOTE: UniProt (http://www.uniprot.org/uniprot/P33261) suggests using caution when interpreting this information.

How are changes in the CYP2C19 gene related to health conditions?

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1557) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CYP2C19 gene.
  • CYP2C19-related poor drug metabolism[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the CYP2C19 gene located?

Cytogenetic Location: 10q24

Molecular Location on chromosome 10: base pairs 94,762,705 to 94,852,913

The CYP2C19 gene is located on the long (q) arm of chromosome 10 at position 24.

The CYP2C19 gene is located on the long (q) arm of chromosome 10 at position 24.

More precisely, the CYP2C19 gene is located from base pair 94,762,705 to base pair 94,852,913 on chromosome 10.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about CYP2C19?

You and your healthcare professional may find the following resources about CYP2C19 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 CYP2C19 gene or gene products?

  • CPCJ
  • CYP2C
  • P450C2C
  • P450IIC19

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding CYP2C19?

chimera ; cholesterol ; chromosome ; clone ; cytochrome P450 ; endoplasmic reticulum ; gene ; metabolism ; polymorphism ; protein ; steroids ; synthesis ; xenobiotics

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: July 14, 2014