| Entrez Gene ID | 3293 |
|---|---|
| Official Gene Symbol | HSD17B3 (GeneCards) |
| Full name | hydroxysteroid 17-beta dehydrogenase 3 |
| Location | 9q22.32 |
| Other ids | Vega : OTTHUMG00000020292 MIM : 605573 HGNC : HGNC:5212 Ensembl : ENSG00000130948 |
| Other names | EDH17B3, SDR12C2 |
| Summary | This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 13391 | 3293 | HSD17B3 | 9 | 99075565 | 99075565 | Asymptomatic | HiSeq X Ten |
| 13780 | 3293 | HSD17B3 | 9 | 99079342 | 99079342 | Xeroderma Pigmentosum | HiSeq X Ten |
| 13781 | 3293 | HSD17B3 | 9 | 99079346 | 99079346 | Xeroderma Pigmentosum | HiSeq X Ten |
| 13782 | 3293 | HSD17B3 | 9 | 99079352 | 99079352 | Xeroderma Pigmentosum | HiSeq X Ten |
| 13783 | 3293 | HSD17B3 | 9 | 99079360 | 99079360 | Xeroderma Pigmentosum | HiSeq X Ten |
| 23465 | 3293 | HSD17B3 | 9 | 99033871 | 99033871 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |