Identity
HGNC
LOCATION
Xp11.22
LOCUSID
ALIAS
17b-HSD10,ABAD,CAMR,DUPXp11.22,ERAB,HADH2,HCD2,HSD10MD,MHBD,MRPP2,MRX17,MRX31,MRXS10,SCHAD,SDR5C1
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: 3028
MIM: 300256
HGNC: 4800
Ensembl: ENSG00000072506
Variants:
dbSNP: 3028
ClinVar: 3028
TCGA: ENSG00000072506
COSMIC: HSD17B10
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000072506 | ENST00000168216 | Q99714 |
| ENSG00000072506 | ENST00000168216 | A0A0S2Z410 |
| ENSG00000072506 | ENST00000375298 | Q5H928 |
| ENSG00000072506 | ENST00000375304 | Q99714 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38684297 | 2024 | [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes]. | 0 |
| 38684297 | 2024 | [Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes]. | 0 |
| 37239833 | 2023 | Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase. | 2 |
| 38139430 | 2023 | Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease. | 0 |
| 37239833 | 2023 | Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase. | 2 |
| 38139430 | 2023 | Involvement of Type 10 17β-Hydroxysteroid Dehydrogenase in the Pathogenesis of Infantile Neurodegeneration and Alzheimer's Disease. | 0 |
| 36271951 | 2022 | ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism. | 4 |
| 36271951 | 2022 | ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism. | 4 |
| 34489609 | 2021 | Structural basis of RNA processing by human mitochondrial RNase P. | 32 |
| 34489609 | 2021 | Structural basis of RNA processing by human mitochondrial RNase P. | 32 |
| 32381089 | 2020 | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | 6 |
| 32703935 | 2020 | Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses. | 9 |
| 32381089 | 2020 | Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1. | 6 |
| 32703935 | 2020 | Deacetylation of HSD17B10 by SIRT3 regulates cell growth and cell resistance under oxidative and starvation stresses. | 9 |
| 31654490 | 2019 | HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French-Canadian patients from Quebec. | 7 |
Citation
Dessen P
HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51095/hsd17b10-(hydroxysteroid-17-beta-dehydrogenase-10)
