HSD17B6
hydroxysteroid 17-beta dehydrogenase 6
Summary
The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs898611 | 12:57,163,316 | C/T | intron variant | — |
| rs142198758 | 12:57,167,653 | C/T | — | likely benign |
| rs377391956 | 12:57,167,660 | C/T | — | likely benign |
| rs762706280 | 12:57,167,698 | G/A | — | uncertain significance |
| rs375598170 | 12:57,167,740 | C/A | — | uncertain significance |
| rs757482752 | 12:57,167,742 | G/A | — | uncertain significance |
| rs201098412 | 12:57,167,752 | C/T | — | uncertain significance |
| rs375178982 | 12:57,167,778 | C/G | — | uncertain significance |
| rs2547890760 | 12:57,167,806 | T/C | — | uncertain significance |
| rs983637457 | 12:57,167,808 | G/A | — | uncertain significance |
| rs370898544 | 12:57,167,821 | C/T | — | uncertain significance |
| rs2547890777 | 12:57,167,828 | G/C | — | uncertain significance |
| rs148211848 | 12:57,167,835 | G/A | — | uncertain significance |
| rs147344470 | 12:57,167,873 | G/A | — | benign |
| rs10459247 | 12:57,171,516 | T/C | intron variant | — |
| rs145914206 | 12:57,172,571 | G/C | intron variant | — |
| rs1480746918 | 12:57,175,766 | G/A | — | uncertain significance |
| rs149472960 | 12:57,175,769 | C/G | — | uncertain significance |
| rs771594241 | 12:57,175,896 | T/C | — | uncertain significance |
| rs10876920 | 12:57,176,175 | C/G | — | — |
| rs764447697 | 12:57,178,639 | G/A | — | uncertain significance |
| rs778675716 | 12:57,178,710 | A/G | — | uncertain significance |
| rs765683981 | 12:57,178,753 | C/A | — | uncertain significance |
| rs758900448 | 12:57,178,756 | C/G | — | uncertain significance |
| rs146253468 | 12:57,180,917 | A/G | — | uncertain significance |
| rs139388173 | 12:57,181,002 | C/T | — | uncertain significance |
| rs1033756706 | 12:57,181,074 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.