| Name | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 |
| Symbol | HSD3B1 |
| Aliases | HSD3B; HSDB3; Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid |
| Gene Product | - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.38586 |
| OMIM | 109715 |
| Locus | 3283 |
| Summary | 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase; converts delta 5-3 beta-hydroxysteroids to delta 4-3-ketosteroids |
| Gene Ontology | |
| Expression | | EST (212 ESTs, 52 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| bone marrow (1/263) |  | 2/38555 |
| colon (2/853) | | 5/165626 |
| eye (1/33) | | 1/93836 |
| heart (1/22) | | 2/55494 |
| liver (1/38) | | 1/46472 |
| placenta (38/342) | | 167/157762 |
| skin (1/31) | | 6/100815 |
| testis (1/171) | | 1/117531 |
| uncharacterized tissue (5/1773) | | 23/713325 |
| uterus (1/212) | | 4/155110 |
|
| SAGE (2381959 tags, 43 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 3/97046 |
| brain (6/19) | | 8/402541 |
| colon (4/8) | | 6/324850 |
| eye (2/6) | | 2/158978 |
| heart (1/1) | | 1/84357 |
| kidney (1/2) | | 1/41857 |
| lung (1/1) | | 1/89143 |
| mammary gland (5/19) | | 7/343426 |
| ovary (2/10) | | 4/181994 |
| pancreas (2/8) | | 2/72311 |
| prostate (5/13) |  | 7/412749 |
| stomach (1/3) | | 1/66032 |
| uncharacterized tissue (1/22) | | 1/54096 |
| vascular (1/3) | | 1/52579 |
|
|
| SNP | rs2017159 (G/T:locus-region); rs1802875 (C/T:exception); rs932603 (C/T:locus-region); rs2273582 (A/G:exception); rs3088282 (G/A:exception); rs6200 (T/C:mrna-utr); rs2236780 (G/A:exception); |
| Evidence | Mutation in Prostate cancer
|
