HSD17B10 Chromosome X
Hydroxysteroid 17-beta dehydrogenase 10
Upload your DNA to see your personal genotypes for variants in HSD17B10.
What This Gene Does
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
"Short chain dehydrogenase/reductase superfamily|Mitochondrial RNase P complex"
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000072506
Associated Conditions (5)
Inborn genetic diseases
HSD10 mitochondrial disease
Neurodevelopmental delay
HSD17B10-related disorder
See cases
Key Variants
RS1064794694
Conflicting classifications of pathogenicity
Inborn genetic diseases, HSD10 mitochondrial disease, Neurodevelopmental delay
Health Risk
RS367982176
Conflicting classifications of pathogenicity
Health Risk
RS371014686
Conflicting classifications of pathogenicity
HSD10 mitochondrial disease, Inborn genetic diseases, HSD10 mitochondrial disease
Health Risk
RS374438347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782143488
Conflicting classifications of pathogenicity
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS965610533
Conflicting classifications of pathogenicity
HSD17B10-related disorder, HSD17B10-related disorder
Health Risk
RS1348504554
Likely pathogenic
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS1602426573
Likely pathogenic
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS2075824424
Likely pathogenic
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS2075834227
Likely pathogenic
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS2521092158
Likely pathogenic
HSD10 mitochondrial disease, HSD10 mitochondrial disease
Health Risk
RS2521092831
Likely pathogenic
See cases, See cases
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794694 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HSD10 mitochondrial disease, Neurodevelopmental delay |
| RS367982176 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371014686 | Health Risk | Conflicting classifications of pathogenicity | HSD10 mitochondrial disease, Inborn genetic diseases, HSD10 mitochondrial disease |
| RS374438347 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782143488 | Health Risk | Conflicting classifications of pathogenicity | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS965610533 | Health Risk | Conflicting classifications of pathogenicity | HSD17B10-related disorder, HSD17B10-related disorder |
| RS1348504554 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS1602426573 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS2075824424 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS2075834227 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS2521092158 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS2521092831 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2521096456 | Health Risk | Likely pathogenic | HSD17B10-related disorder, HSD17B10-related disorder |
| RS886037927 | Health Risk | Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS122461163 | Health Risk | Pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS122462164 | Health Risk | Pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS28935475 | Health Risk | Pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS587777651 | Health Risk | Pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS1556894502 | Health Risk | Pathogenic/Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |
| RS886041974 | Health Risk | Pathogenic/Likely pathogenic | HSD10 mitochondrial disease, HSD10 mitochondrial disease |