Cytochrome P450, family 17, subfamily A, polypeptide 1
The CYP17A1 gene encodes an enzyme that is located in the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities. I plays an importand role in sythesis of mayn steroid hormones including progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Depending on the character, mutations cause isolated steroid-17 alpha-hydroxylase deficiency or combined 17-alpha-hydroxylase/17,20-lyase deficiency. Both disorders are autosomal recessive.
Genetests:
Related Diseases:
References:
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Sparkes RS et al. (1991) Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25.
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2. |
Imai T et al. (1992) Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency.
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3. |
Müssig K et al. (2005) 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene.
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4. |
Hopper JL et al. (2005) A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer.
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5. |
Jones KL et al. (1992) Male pseudohermaphroditism resulting from 17 alpha-monooxygenase (P-450C17) deficiency in two unrelated Guamanians.
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6. |
Brooke AM et al. (2006) A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency.
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7. |
Biason A et al. (1991) Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.
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8. |
Yang J et al. (2006) Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.
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9. |
Ergun-Longmire B et al. (2006) Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
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10. |
Lin D et al. (1991) Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency.
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11. |
Ahlgren R et al. (1992) 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.
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12. |
Youngblood GL et al. (1991) Isolation, characterization, and chromosomal mapping of mouse P450 17 alpha-hydroxylase/C17-20 lyase.
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13. |
Schulze JJ et al. (2008) Genetic aspects of epitestosterone formation and androgen disposition: influence of polymorphisms in CYP17 and UGT2B enzymes.
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14. |
Kayes-Wandover KM et al. (2000) Steroidogenic enzyme gene expression in the human heart.
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15. |
Yanase T et al. (1990) Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a 7-basepair duplication in the N-terminal region of the cytochrome P45017 alpha (CYP17) gene.
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16. |
Winter JS et al. (1989) Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.
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17. |
Kagimoto K et al. (1989) Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
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18. |
Chung BC et al. (1987) 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.
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19. |
Matteson KJ et al. (1986) Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase) to human chromosome 10.
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20. |
Carey AH et al. (1994) Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17.
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21. |
Carey AH et al. (1993) Evidence for a single gene effect causing polycystic ovaries and male pattern baldness.
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22. |
Laflamme N et al. (1996) Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
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23. |
Zlotogora J et al. (1996) Multiple mutations in a specific gene in a small geographic area: a common phenomenon?
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24. |
Slominski A et al. (1996) ACTH receptor, CYP11A1, CYP17 and CYP21A2 genes are expressed in skin.
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25. |
Suzuki Y et al. (1998) A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency.
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26. |
Fan YS et al. (1992) Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding.
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27. |
Loukola A et al. (2004) Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.
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28. |
Martin RM et al. (2003) P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
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29. |
Yanase T et al. (1989) 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.
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30. |
Kagimoto M et al. (1988) 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.
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31. |
Yazaki K et al. (1982) Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report.
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32. |
Oshiro C et al. (1995) Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene.
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33. |
Miura K et al. (1996) Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17.
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34. |
Yamaguchi H et al. (1997) A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.
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35. |
Geller DH et al. (1997) The genetic and functional basis of isolated 17,20-lyase deficiency.
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36. |
Krohn K et al. (1992) Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 alpha-hydroxylase.
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37. |
Nedelcheva Kristensen V et al. (1999) CYP17 and breast cancer risk: the polymorphism in the 5' flanking area of the gene does not influence binding to Sp-1.
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38. |
Auchus RJ et al. (1999) Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
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39. |
Biason-Lauber A et al. (2000) 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
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40. |
Wickenheisser JK et al. (2000) Differential activity of the cytochrome P450 17alpha-hydroxylase and steroidogenic acute regulatory protein gene promoters in normal and polycystic ovary syndrome theca cells.
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41. |
Hanley NA et al. (2001) Expression profiles of SF-1, DAX1, and CYP17 in the human fetal adrenal gland: potential interactions in gene regulation.
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42. |
Lin CJ et al. (2001) NF-1C, Sp1, and Sp3 are essential for transcription of the human gene for P450c17 (steroid 17alpha-hydroxylase/17,20 lyase) in human adrenal NCI-H295A cells.
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43. |
Di Cerbo A et al. (2002) Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.
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44. |
Van Den Akker EL et al. (2002) Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
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45. |
Gorai I et al. (2003) Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-alpha gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women.
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46. |
Flück CE et al. (2003) The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway.
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47. |
Costa-Santos M et al. (2004) Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.
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48. |
Costa-Santos M et al. (2004) Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
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49. |
Taniyama M et al. (2005) Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.
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50. |
Orphanet article
Orphanet ID 120963
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51. |
NCBI article
NCBI 1586
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52. |
OMIM.ORG article
Omim 609300
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53. |
Wikipedia article
Wikipedia EN (CYP17A1)
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Update: Aug. 14, 2020