HSD17B3 Chromosome 9
Hydroxysteroid 17-beta dehydrogenase 3
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What This Gene Does
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]
Gene Info
Gene Group
Short chain dehydrogenase/reductase superfamily
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000130948
Associated Conditions (13)
Testosterone 17-beta-dehydrogenase deficiency
See cases
HSD17B3-related disorder
Pseudohermaphroditism
Disorder of sexual differentiation
Differences in sex development
Inborn genetic diseases
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Malignant tumor of esophagus
Ovarian cancer
Key Variants
RS1045653050
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS115684579
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS1313736012
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS139084702
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, See cases, HSD17B3-related disorder
Health Risk
RS139149152
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS139582148
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, HSD17B3-related disorder, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS142236065
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS188471808
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS2490091018
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS370307178
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS762619509
Conflicting classifications of pathogenicity
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
RS119481074
Likely pathogenic
Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
Health Risk
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753360928 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS767259718 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS767765046 | Health Risk | Pathogenic | — |
| RS777697545 | Health Risk | Pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS115063639 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS119481077 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism, Testosterone 17-beta-dehydrogenase deficiency |
| RS119481079 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS144809928 | Health Risk | Pathogenic/Likely pathogenic | Pseudohermaphroditism, Inborn genetic diseases, Testosterone 17-beta-dehydrogenase deficiency |
| RS191153391 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS370264627 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS372027264 | Health Risk | Pathogenic/Likely pathogenic | Pseudohermaphroditism, Testosterone 17-beta-dehydrogenase deficiency, Pseudohermaphroditism |
| RS747329682 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS768355659 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |
| RS780178733 | Health Risk | Pathogenic/Likely pathogenic | Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency |