Cytochrome P450, Family 17, Subfamily A, Polypeptide 1

Alternative Names

  • CYP17A1
  • Steroid 17-Alpha-Monooxygenase Cytochrome P450, Subfamily XVII
  • CYP17
  • P450C17
  • S17AH
  • Steroid 17-Hydroxylase/17,20-Lyase
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OMIM Number

609300

NCBI Gene ID

1586

Uniprot ID

P05093

Length

6,942 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Steroid 17-alpha-hydroxylase/17,20 lyase

Molecular Mass

57371 Da

Amino Acid Count

508

Genomic Location

chr10:102,830,531-102,837,472

Gene Map Locus
10q24.32

Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000102.4:c.287G>AUnited Arab EmiratesNC_000010.11:g.102837075C>TLikely Pathogenic,PathogenicAdrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase DeficiencyNG_007955.1:g.5459G>A; NM_000102.4:c.287G>A; NP_000093.1:p.Arg96Gln1048941531802
NM_000102.4:c.-34T>CLebanonchr10:102837395BenignProstate CancerNG_007955.1:g.5139T>C; NM_000102.4:c.-34T>C743572298630
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