Identity
HGNC
LOCATION
9q22.32
LOCUSID
ALIAS
EDH17B3,SDR12C2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3293
MIM: 605573
HGNC: 5212
Ensembl: ENSG00000130948
Variants:
dbSNP: 3293
ClinVar: 3293
TCGA: ENSG00000130948
COSMIC: HSD17B3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36154887 | 2023 | Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients. | 0 |
| 36563763 | 2023 | Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population. | 0 |
| 36154887 | 2023 | Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients. | 0 |
| 36563763 | 2023 | Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population. | 0 |
| 34885749 | 2021 | Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17β-Hydroxysteroid Dehydrogenase Type 3. | 0 |
| 34885749 | 2021 | Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17β-Hydroxysteroid Dehydrogenase Type 3. | 0 |
| 31614207 | 2020 | Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation. | 9 |
| 32372306 | 2020 | The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD. | 2 |
| 31614207 | 2020 | Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation. | 9 |
| 32372306 | 2020 | The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD. | 2 |
| 26956191 | 2017 | Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect. | 5 |
| 28774765 | 2017 | Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development. | 3 |
| 28859874 | 2017 | Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients. | 3 |
| 26956191 | 2017 | Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect. | 5 |
| 28774765 | 2017 | Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development. | 3 |
Citation
Dessen P
HSD17B3 (hydroxysteroid 17-beta dehydrogenase 3)
Atlas Genet Cytogenet Oncol Haematol. 2013-11-01
Online version: http://atlasgeneticsoncology.org/gene/53741/hsd17b3-(hydroxysteroid-17-beta-dehydrogenase-3)
