| Name | cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia |
| Symbol | CYP17 |
| Aliases | CPT7; S17AH; P450C17; cytochrome p450 XVIIA1; steroid 17-alpha-monooxygenase; steroid 17-alpha-hydroxylase/17,20 lyase |
| Gene Product | - cytochrome P450, subfamily XVII polypeptide
|
| Category | - Polymorphism in Benign prostate hyperplasia
- Polymorphism in Prostate cancer
|
| UniGene | Hs.1363 |
| OMIM | 202110 |
| Locus | 1586 |
| Summary | 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. |
| Gene Ontology | |
| Expression | | EST (162 ESTs, 28 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (8/15) |  | 77/17521 |
| brain (1/204) | | 14/362011 |
| colon (1/853) | | 2/165626 |
| embryo (2/19) | | 4/37976 |
| germ cell (1/7) | | 1/57383 |
| head and neck (2/990) | | 5/79796 |
| kidney (4/86) | | 13/132968 |
| testis (2/171) | | 2/117531 |
| uncharacterized tissue (7/1773) | | 44/713325 |
|
| SAGE (5390081 tags, 100 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (14/19) | | 29/1291519 |
| cerebellum (1/1) | | 1/51280 |
| colon (7/8) | | 10/551118 |
| eye (4/6) | | 6/477023 |
| kidney (2/2) | | 2/73935 |
| liver (1/1) | | 2/133722 |
| lung (1/1) | | 3/178286 |
| mammary gland (8/19) | | 13/606734 |
| muscle (1/2) | | 1/53853 |
| ovary (4/10) | | 6/210171 |
| pancreas (4/8) | | 6/179980 |
| prostate (3/13) |  | 6/249682 |
| skin (2/7) | | 2/24018 |
| stomach (1/3) | | 1/70433 |
| uncharacterized tissue (15/22) | | 26/1027987 |
| vascular (2/3) | | 4/210340 |
|
|
| SNP | rs6162 (G/A:coding-nonsyn); rs3020711 (A/T:intron); rs1042386 (C/T:coding-nonsyn); rs1004467 (C/T:intron); rs2911431 (A/C:intron); rs284847 (C/T:intron); rs755443 (C/T:intron); rs743572 (A/C:intron); rs762563 (C/G:coding-nonsyn); rs2486758 (T/C:locus-region); |
| Evidence | Polymorphism in Benign prostate hyperplasia
Polymorphism in Prostate cancer
|
