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.
SWISS:
P05093
Gene ID:
1586
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
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Paraformaldehyde-fixed, paraffin embedded (Mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (CYP17) Polyclonal Antibody, Unconjugated (SL3853R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
Paraformaldehyde-fixed, paraffin embedded (Mouse testis); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (CYP17) Polyclonal Antibody, Unconjugated (SL3853R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
Tissue/cell: mouse embryo tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;
Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,SLC0005) at 37℃ for 20 min;
Incubation: Anti-CYP17 Polyclonal Antibody, Unconjugated(SL3853R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(SLC0010) staining
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