CYP11A1 Chromosome 15
Cytochrome P450 family 11 subfamily A member 1
Upload your DNA to see your personal genotypes for variants in CYP11A1.
What This Gene Does
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]
Gene Info
Gene Group
Cytochrome P450 family 11
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000140459
Associated Conditions (14)
Pulmonary disease
chronic obstructive
susceptibility to
Ovarian serous cystadenocarcinoma
Congenital adrenal insufficiency with 46
XY sex reversal OR 46
XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
CYP11A1-related disorder
ADRENAL HYPERPLASIA
CONGENITAL
DUE TO 21-HYDROXYLASE DEFICIENCY
Congenital adrenal hyperplasia
Congenital Adrenal Insufficiency
Glioma susceptibility 1
Key Variants
RS117987520
association
Pulmonary disease, chronic obstructive, susceptibility to
Health Risk
RS112977174
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS138177167
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS141127674
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS141375785
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS143655263
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS148430549
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS199573967
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS200029503
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS2060639466
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS537187397
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
RS6161
Conflicting classifications of pathogenicity
Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117987520 | Health Risk | association | Pulmonary disease, chronic obstructive, susceptibility to |
| RS112977174 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS138177167 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS141127674 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS141375785 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS143655263 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS148430549 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS199573967 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS200029503 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS2060639466 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS537187397 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS6161 | Health Risk | Conflicting classifications of pathogenicity | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS1021942880 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS121912812 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS1284060395 | Health Risk | Likely pathogenic | Congenital Adrenal Insufficiency, Congenital Adrenal Insufficiency |
| RS1567050773 | Health Risk | Likely pathogenic | — |
| RS2060625814 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS2060639501 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS535782968 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS72547508 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS769950368 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS886041121 | Health Risk | Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS121912813 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS121912814 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS1287871034 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS1400474918 | Health Risk | Pathogenic | — |
| RS141235847 | Health Risk | Pathogenic | — |
| RS1567053134 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS2060619548 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS2060627551 | Health Risk | Pathogenic | — |
| RS2548329655 | Health Risk | Pathogenic | — |
| RS2548330553 | Health Risk | Pathogenic | — |
| RS2548330915 | Health Risk | Pathogenic | — |
| RS2548330928 | Health Risk | Pathogenic | — |
| RS2548330961 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS387906601 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS755186597 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS757299093 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS762412759 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS776056840 | Health Risk | Pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS886041759 | Health Risk | Pathogenic | — |
| RS121912811 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS1306288607 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |
| RS775102947 | Health Risk | Pathogenic/Likely pathogenic | Congenital adrenal insufficiency with 46, XY sex reversal OR 46, XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency |