CYP11A1
Cytochrome P450 Family 11 Subfamily A Member 1 (Cholesterol Side-Chain Cleavage Enzyme)
Gene Information Card
| Symbol | CYP11A1 |
|---|---|
| Full Name | Cytochrome P450 Family 11 Subfamily A Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 1583 ncbi.nlm.nih.gov/gene/1583 |
| Ensembl ID | ENSG00000140459 |
| UniProt ID | P05108 |
| OMIM ID | 118485 |
| HGNC ID | 2597 |
| Aliases | CYP11A, P450SCC, CYPXIA1, SCC |
Description
CYP11A1 encodes the cholesterol side-chain cleavage enzyme (P450scc), a mitochondrial cytochrome P450 that catalyzes the first and rate-limiting step of steroidogenesis: conversion of cholesterol to pregnenolone. This enzyme is essential for the synthesis of all steroid hormones, including glucocorticoids, mineralocorticoids, and sex steroids. Mutations in CYP11A1 cause congenital adrenal hyperplasia with adrenal insufficiency (lipoid CAH) and can also be associated with primary adrenal insufficiency and disorders of sex development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital adrenal hyperplasia due to 20,22-desmolase deficiency (lipoid CAH) | Loss-of-function mutations impair conversion of cholesterol to pregnenolone, blocking all steroid hormone synthesis, leading to adrenal insufficiency and sex development disorders. | OMIM #613743, ClinVar |
| Primary adrenal insufficiency | Biallelic CYP11A1 mutations reduce cortisol and aldosterone production, causing adrenal crisis. | ClinVar, NCBI |
| 46,XY disorder of sex development | Deficient testosterone synthesis due to impaired steroidogenesis results in undervirilization. | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 27.8 | High |
| Ovary | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Placenta | 6.1 | Medium |
| Brain | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H295R (adrenocortical) | 35.0 | High expression |
| KGN (ovarian granulosa) | 12.0 | Medium expression |
| LNCaP (prostate) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.835G>A (p.Gly279Arg) | Missense | Rare | Loss of function; associated with lipoid CAH |
| c.940G>A (p.Gly314Ser) | Missense | Rare | Partial loss of function; mild adrenal insufficiency |
| c.1222C>T (p.Arg408Trp) | Missense | Rare | Severe loss of function; lipoid CAH |
| c.1355G>A (p.Arg452Gln) | Missense | Rare | Reduced enzyme activity; adrenal insufficiency |
Mutation functional classification
Loss of Function (LOF)
Most CYP11A1 mutations are loss-of-function, reducing or abolishing cholesterol side-chain cleavage activity, leading to steroid hormone deficiency.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CYP11A1.
Dominant Negative (DN)
No dominant-negative mutations have been described for CYP11A1.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/1583 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CYP11A1
Gene Ontology (GO)
| • cholesterol monooxygenase (side-chain-cleaving) activity | • iron ion binding |
| • heme binding | • oxidoreductase activity |
| • acting on paired donors | • with incorporation or reduction of molecular oxygen |
| • mitochondrion | • steroid biosynthetic process |
| • C21-steroid hormone biosynthetic process |
Pathways
• Metabolism of steroids (Reactome: R-HSA-196071)
• Glucocorticoid biosynthesis (Reactome: R-HSA-196108)
• Mineralocorticoid biosynthesis (Reactome: R-HSA-193993)
• Sex steroid biosynthesis (Reactome: R-HSA-196054)
Protein Summary
CYP11A1 (P450scc) is a 521-amino acid mitochondrial cytochrome P450 enzyme that catalyzes the conversion of cholesterol to pregnenolone via three sequential hydroxylation reactions (20α-hydroxylation, 22-hydroxylation, and side-chain cleavage). It is expressed primarily in steroidogenic tissues (adrenal cortex, gonads, placenta) and is essential for the production of all steroid hormones. The protein contains a heme-binding domain and requires adrenodoxin and adrenodoxin reductase for electron transfer.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP11A1 Knockout HEK293 Cell Line | EDJ-KQ4409 | Human | 1583 | Details Get a Quote |
| CYP11A1 Knockout HeLa Cell Line | EDJ-KQ26936 | Human | 1583 | Details Get a Quote |
| Cyp11a1 Knockout B16-F10 Cell Line | EDJ-KZ173 | Mouse | 1583 | Details Get a Quote |
| CYP11A1 Knockout A-549 Cell Line | EDJ-KQ61523 | Human | 1583 | Details Get a Quote |
| CYP11A1 Knockout HCT 116 Cell Line | EDJ-KQ70015 | Human | 1583 | Details Get a Quote |
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