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Gene : CYP17A1 Homo sapiens

Name  ? cytochrome P450 family 17 subfamily A member 1 Cytological Location  10q24.32
Brief Description  cytochrome P450 family 17 subfamily A member 1
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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • uc001kwg.3,
  • S17AH,
  • NM_000102,
  • P450C17,
  • CPT7,
  • CPT7,
  • Steroid 17-alpha-monooxygenase,
  • HGNC:2593,
  • CYP17A1,
  • M19489,
  • CYP17,
  • P450C17,
  • S17AH,
  • cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia,
  • cytochrome P450, family 17, subfamily A, polypeptide 1,
  • CYP17,
  • OTTHUMG00000018969
  • identifiers:
  • 1586,
  • ENSG00000148795,
  • CYP17A1

Genome feature

Region: gene ? Length: 6883  
Location: 10:102830531-102837413 reverse strand Cyto location: 10q24.32

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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436 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results