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HSD17B10 - hydroxysteroid 17-beta dehydrogenase 10
- Synonym(s) : 17b-HSD10, ABAD, AB-binding alcohol dehydrogenase, CAMR, ERAB, MHBD, mitochondrial RNase P subunit 2, MRPP2, SDR5C1, short chain dehydrogenase/reductase family 5C, member 1, type 10 17beta-hydroxysteroid dehydrogenase, type 10 17b-HSD
- Previous symbols and names : HADH2, MRXS10, hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxysteroid (17-beta) dehydrogenase 10, mental retardation, X-linked, syndromic 10
- Type : gene with protein product
- Chromosomal location : Xp11.22
- OMIM: 300256
- HGNC: 4800
- UniProtKB: Q99714
- Genatlas: HSD17B10
- GenCC: HSD17B10
- Ensembl: ENSG00000072506
- IUPHAR-DB: -
- Reactome: Q99714
- LOVD: HSD17B10
Diseases list
- Disease-causing germline mutation(s) in HSD10 disease, atypical type
ORPHA:85295 
- Disease-causing germline mutation(s) in HSD10 disease, infantile type
ORPHA:391428 - Disease-causing germline mutation(s) in HSD10 disease, neonatal type
ORPHA:391457
: AssessedAdditional information
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Research activities on this gene
Specialised Social Services
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