background:
Cytochrome P450 17A1 (CYP17A1) belongs to the cytochrome P450 family; it plays a role in the conversion of pregnenolone and progesterone into their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. CYP17A1 also catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. CYP17A1 is involved in sexual development during fetal life and at puberty. Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5). AH5 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol.
Function:
Conversion of pregnenolone and progesterone to their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. Catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. Involved in sexual development during fetal life and at puberty.
Subcellular Location:
Membrane.
Post-translational modifications:
Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.
DISEASE:
Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5) [MIM:202110]. AH5 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: "salt wasting" (SW, the most severe type), "simple virilizing" (SV, less severely affected patients), with normal aldosterone biosynthesis, "non-classic form" or late onset (NC or LOAH), and "cryptic" (asymptomatic).
Similarity:
Belongs to the cytochrome P450 family.
Database links:
Entrez Gene: 493967 Cat
Entrez Gene: 477807 Dog
Entrez Gene: 101831170 Hamster
Entrez Gene: 1586 Human
Omim: 609300 Human
SwissProt: Q9GMC8 Cat
SwissProt: Q8HYN1 Chimpanzee
SwissProt: P70687 Hamster
SwissProt: Q95328 Horse
SwissProt: P05093 Human
Unigene: 87616 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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