脱落酸CAS号：21293-29-8价格

(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 s脱落酸CAS号：21293-29-8价格evere 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 : CP17A_HUMAN

英文名称  Anti-CYP7A1 

中文名称  细胞色素P450 7A1抗体/胆固醇7a羟化酶 

别    名  Cholesterol 7 alpha hydroxylase;