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CYP11A1

CYP11A1

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

What is the official name of the CYP11A1 gene?

The official name of this gene is “cytochrome P450 family 11 subfamily A member 1.”

CYP11A1 is the gene's official symbol. The CYP11A1 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 CYP11A1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

From UniProt (CP11A_HUMAN)This link leads to a site outside Genetics Home Reference.:

Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.

How are changes in the CYP11A1 gene related to health conditions?

UniProt (CP11A_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the CYP11A1 gene's known or predicted involvement in human disease.

Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR): A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CYP11A1 gene.
  • Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the CYP11A1 gene and its association with health conditions.
OMIM
Number
Title

Where is the CYP11A1 gene located?

Cytogenetic Location: 15q23-q24

Molecular Location on chromosome 15: base pairs 74,337,762 to 74,367,740

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The CYP11A1 gene is located on the long (q) arm of chromosome 15 between positions 23 and 24.

The CYP11A1 gene is located on the long (q) arm of chromosome 15 between positions 23 and 24.

More precisely, the CYP11A1 gene is located from base pair 74,337,762 to base pair 74,367,740 on chromosome 15.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CYP11A1?

You and your healthcare professional may find the following resources about CYP11A1 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 CYP11A1 gene or gene products?

  • CYP11A
  • CYPXIA1
  • P450SCC

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 CYP11A1?

acute ; cholesterol ; congenital ; cytochrome P450 ; gene ; genitalia ; hyperplasia ; isoforms ; metabolism ; peptide ; plasma ; protein ; spectrum ; steroids ; synthesis ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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.

 
Published: February 1, 2016