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功能
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.
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通路
Lipid metabolism; steroid biosynthesis.
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疾病相关
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).
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序列相似性
Belongs to the cytochrome P450 family.
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翻译后修饰
Phosphorylation is necessary for 17,20-lyase, but not for 17-alpha-hydroxylase activity.
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细胞定位
Membrane.
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Information by UniProt
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数据库链接
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别名
- 20 lyase antibody
- CP17A_HUMAN antibody
- CPT7 antibody
- CYP17 antibody
- CYP17A1 antibody
- CYPXVII antibody
- Cytochrome P450 17A1 antibody
- Cytochrome P450 family 17 antibody
- Cytochrome P450 family 17 subfamily A polypeptide 1 antibody
- Cytochrome p450 subfamily XVII (steroid 17 alpha hydroxylase) adrenal hyperplasia antibody
- Cytochrome p450 XVIIA1 antibody
- Cytochrome P450-C17 antibody
- Cytochrome P450c17 antibody
- OTTHUMP00000020382 antibody
- P450 C17 antibody
- P450c17 antibody
- S17AH antibody
- Steroid 17 alpha hydroxylase/17,20 lyase antibody
- Steroid 17 alpha monooxygenase antibody
- Steroid 17-alpha-hydroxylase/17 antibody
- Steroid 17-alpha-monooxygenase antibody
see all