full name
cytochrome P450 family 11 subfamily A member 1

synonyms
CYP11A, CYPXIA1, P450SCC, CYP11A1, ENSG00000140459

HGNC
HGNC:2590

Entrez Gene
Gene:1583

ENSEMBL
ENSG00000140459

location
chr: 15
start: 74630103
stop: 74660081
strand: -

OMIM
OMIM:118485: CYP11A1
OMIM:613743: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete

transcripts
NM_000781.2
NM_001099773.1

pathways
Aldosterone synthesis and secretion [NCBI:1272485] [KEGG:hsa04925] [PUBMED:15044681] [PUBMED:10536682] [PUBMED:24944029] [PUBMED:25788893] [PUBMED:15026188] [PUBMED:22689262] [PUBMED:22364774] [PUBMED:18406824] [PUBMED:14645496] [PUBMED:21839803] [PUBMED:22395411] [PUBMED:23628605] [PUBMED:21962440]
Biological oxidations [NCBI:1270189] [REACTOME:R-HSA-211859]
Cytochrome P450 - arranged by substrate type [NCBI:1270191] [REACTOME:R-HSA-211897] [PUBMED:16584116] [PUBMED:15102545] [PUBMED:12369887]
Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [NCBI:1268980] [REACTOME:R-HSA-5579026] [PUBMED:18182448]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of metabolism [NCBI:1268939] [REACTOME:R-HSA-5668914]
Endogenous sterols [NCBI:1270192] [REACTOME:R-HSA-211976] [PUBMED:16872679] [PUBMED:15102545] [PUBMED:16584116]
Metabolic disorders of biological oxidation enzymes [NCBI:1268977] [REACTOME:R-HSA-5579029] [PUBMED:23333322] [PUBMED:14697877] [PUBMED:24307925] [PUBMED:21308989] [PUBMED:23297354] [PUBMED:24151358] [PUBMED:24734162] [PUBMED:23632021] [PUBMED:24145751] [PUBMED:23252752]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of steroid hormones [NCBI:1270046] [REACTOME:R-HSA-196071] [PUBMED:15583024]
Ovarian steroidogenesis [NCBI:790011] [KEGG:hsa04913] [PUBMED:11883103] [PUBMED:11408113] [PUBMED:16603089] [PUBMED:15831519] [PUBMED:11447221] [PUBMED:20628033] [PUBMED:10630400] [PUBMED:18440223] [PUBMED:20937107] [PUBMED:11704115] [PUBMED:17003287] [PUBMED:17008391] [PUBMED:15541573] [PUBMED:21862696] [PUBMED:16414178] [PUBMED:14769828]
Phase 1 - Functionalization of compounds [NCBI:1270190] [REACTOME:R-HSA-211945] [PUBMED:12369887] [PUBMED:17125408] [PUBMED:16584116]
Pregnenolone biosynthesis [NCBI:1270047] [REACTOME:R-HSA-196108] [PUBMED:11181954] [PUBMED:15583024]
Steroid hormone biosynthesis [NCBI:82940] [KEGG:hsa00140] [PUBMED:15642792] [PUBMED:16413106] [PUBMED:12832414] [PUBMED:17475203] [PUBMED:12604236] [PUBMED:10998348] [PUBMED:11469811] [PUBMED:16547389] [PUBMED:17926129] [PUBMED:17459698]
Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone [NCBI:413396] [KEGG:hsa_M00107]