HSD17B10 hydroxysteroid 17-beta dehydrogenase 10
Gene ID: 3028, updated on 7-Apr-2024Gene type: protein coding
Also known as: ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; HSD10MD; 17b-HSD10; DUPXp11.22
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- Go to complete Gene record for HSD17B10
- Go to Variation Viewer for HSD17B10 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| HSD10 mitochondrial disease | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xp11.22
- Sequence:
- Chromosome: X; NC_000023.11 (53431258..53434376, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HSD17B10 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HSD17B10 homepage - HSD17B10 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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