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Cytochrome P450 17A1 (CYP17A1)

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S17aH; CPT7; P450C17; 17-Alpha-Hydroxylase; 17-alpha-hydroxyprogesterone aldolase/17,20-Lyase; Steroid 17-alpha-monooxygenase; Cytochrome P450,Family 17,Subfamily A,Polypeptide 1

Cytochrome P450 17A1 (CYP17A1)
CCC C016
HGNC 2593
MGI 88586
PubMed 22714708
RGD 2456
UniProt P05093
Wiki CYP17A1

  • CYP17A1 (also known as 17 alpha-hydroxylase/17,20 lyase/17,20 desmolase) is 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC016Hu01 Recombinant Cytochrome P450 17A1 (CYP17A1) Positive Control; Immunogen; SDS-PAGE; WB.
APC016Hu01 Active Cytochrome P450 17A1 (CYP17A1) Cell culture; Activity Assays.
Antibodies PAC016Hu01 Polyclonal Antibody to Cytochrome P450 17A1 (CYP17A1) WB; ICC/IF
Assay Kits SEC016Hu ELISA Kit for Cytochrome P450 17A1 (CYP17A1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC016Mu01 Recombinant Cytochrome P450 17A1 (CYP17A1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC016Mu01 Polyclonal Antibody to Cytochrome P450 17A1 (CYP17A1) WB; IHC; ICC; IP.
Assay Kits SEC016Mu ELISA Kit for Cytochrome P450 17A1 (CYP17A1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC016Ra01 Recombinant Cytochrome P450 17A1 (CYP17A1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC016Ra01 Polyclonal Antibody to Cytochrome P450 17A1 (CYP17A1) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Cytochrome P450 17A1 (CYP17A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Cytochrome P450 17A1 (CYP17A1) ELISA Kit Customized Service Offer
  1. "Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues."Proc. Natl. Acad. Sci. U.S.A. 84:407-411(1987) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21."DNA 6:439-448(1987) [PubMed] [Europe PMC] [Abstract]
  3. "Characterization of complementary deoxyribonucleic acid for human adrenocortical 17 alpha-hydroxylase: a probe for analysis of 17 alpha-hydroxylase deficiency."Mol. Endocrinol. 1:348-354(1987) [PubMed] [Europe PMC] [Abstract]
  4. "Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells."Mol. Endocrinol. 4:1972-1979(1990) [PubMed] [Europe PMC] [Abstract]
  5. "Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency."Mol. Endocrinol. 2:564-570(1988) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence and comparative analysis of human chromosome 10." Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations."Mol. Endocrinol. 13:1169-1182(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001."Nature 482:116-119(2012) [PubMed] [Europe PMC] [Abstract]
  10. "Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency."J. Biol. Chem. 264:18076-18082(1989) [PubMed] [Europe PMC] [Abstract]
  11. "Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency."J. Biol. Chem. 266:15992-15998(1991) [PubMed] [Europe PMC] [Abstract]
  12. "Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)-->Cys, Gln(461)-->Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency."Biochim. Biophys. Acta 1139:275-279(1992) [PubMed] [Europe PMC] [Abstract]
  13. "Compound heterozygous mutations (Arg 239-->Stop, Pro 342-->Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency."J. Clin. Endocrinol. Metab. 74:667-672(1992) [PubMed] [Europe PMC] [Abstract]
  14. "Expression and purification of functional human 17 alpha-hydroxylase/17,20-lyase (P450c17) in Escherichia coli. Use of this system for study of a novel form of combined 17 alpha-hydroxylase/17,20-lyase deficiency."J. Biol. Chem. 268:19681-19689(1993) [PubMed] [Europe PMC] [Abstract]
  15. "Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha-hydroxylase deficiency."J. Biol. Chem. 268:25811-25817(1993) [PubMed] [Europe PMC] [Abstract]
  16. "Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency."J. Clin. Endocrinol. Metab. 77:489-493(1993) [PubMed] [Europe PMC] [Abstract]
  17. "Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency."J. Clin. Endocrinol. Metab. 79:160-164(1994) [PubMed] [Europe PMC] [Abstract]
  18. "Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients."J. Clin. Endocrinol. Metab. 81:264-268(1996) [PubMed] [Europe PMC] [Abstract]
  19. "The molecular basis of isolated 17,20 lyase deficiency."Pediatr. Res. 39:89A-89A(1996)
  20. "17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation."J. Clin. Endocrinol. Metab. 85:1226-1231(2000) [PubMed] [Europe PMC] [Abstract]
  21. "Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency."J. Clin. Endocrinol. Metab. 86:4416-4423(2001) [PubMed] [Europe PMC] [Abstract]
  22. "Combined 17alpha-hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene."J. Clin. Endocrinol. Metab. 87:898-905(2002) [PubMed] [Europe PMC] [Abstract]
  23. "Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency."J. Clin. Endocrinol. Metab. 87:5714-5721(2002) [PubMed] [Europe PMC] [Abstract]
  24. "P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping."J. Clin. Endocrinol. Metab. 88:5739-5746(2003) [PubMed] [Europe PMC] [Abstract]
  25. "Novel CYP17A1 mutation in a Japanese patient with combined 17alpha-hydroxylase/17,20-lyase deficiency."Metabolism 59:275-278(2010) [PubMed] [Europe PMC] [Abstract]
  26. "Congenital adrenal hyperplasia due to 17-alpha-hydoxylase/17,20-lyase deficiency presenting with hypertension and pseudohermaphroditism: first case report from Oman."Oman Med. J. 29:55-59(2014) [PubMed] [Europe PMC] [Abstract]
  27. "A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation."Metabolism 63:42-49(2014) [PubMed] [Europe PMC] [Abstract]
  28. "Partial deficiency of 17alpha-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif."Eur. J. Endocrinol. 172:K19-25(2015) [PubMed] [Europe PMC] [Abstract]