full name
hydroxysteroid 17-beta dehydrogenase 10

synonyms
17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, MRXS10, SCHAD, SDR5C1, HSD17B10, ENSG00000072506

HGNC
HGNC:4800

Entrez Gene
Gene:3028

ENSEMBL
ENSG00000072506
ENSG00000268188

location
chr: X
start: 53458206
stop: 53461323
strand: -

OMIM
OMIM:300256: HSD17B10 (X-linked dominant inheritance)
OMIM:300438: HSD10 mitochondrial disease

transcripts
NM_001037811.2
NM_004493.2

pathways
Alzheimer's disease [NCBI:83097] [KEGG:hsa05010] [PUBMED:18782350] [PUBMED:18035450] [PUBMED:15177383] [PUBMED:10527810] [PUBMED:15363492] [PUBMED:16677790] [PUBMED:15295589] [PUBMED:17055782] [PUBMED:15864339] [PUBMED:15750290] [PUBMED:18675468] [PUBMED:15232608] [PUBMED:9848086] [PUBMED:11484003] [PUBMED:10830966] [PUBMED:16529745] [PUBMED:17568632]
Branched-chain amino acid catabolism [NCBI:1270161] [REACTOME:R-HSA-70895]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of amino acids and derivatives [NCBI:1270158] [REACTOME:R-HSA-71291]
Valine, leucine and isoleucine degradation [NCBI:82952] [KEGG:hsa00280]
fatty acid beta-oxidation [NCBI:142421] [BIOCYC:HUMAN_FAO-PWY]
isoleucine degradation [NCBI:142358] [BIOCYC:HUMAN_ILEUDEG-PWY] [PUBMED:4150713] [PUBMED:773366]
rRNA processing [NCBI:1383085] [REACTOME:R-HSA-72312] [PUBMED:20174677] [PUBMED:21956940] [PUBMED:25346433] [PUBMED:25590339] [PUBMED:15193314] [PUBMED:11862453] [PUBMED:19917616] [PUBMED:24490730]
rRNA processing in the mitochondrion [NCBI:1427847] [REACTOME:R-HSA-8868766] [PUBMED:26016801]
tRNA modification in the mitochondrion [NCBI:1339124] [REACTOME:R-HSA-6787450] [PUBMED:25734984] [PUBMED:25780173] [PUBMED:21910628] [PUBMED:24581449]
tRNA processing [NCBI:1309088] [REACTOME:R-HSA-72306] [PUBMED:24315934] [PUBMED:24917879] [PUBMED:7759547] [PUBMED:24898039] [PUBMED:26016801] [PUBMED:24490730] [PUBMED:20810645] [PUBMED:21910628]
tRNA processing in the mitochondrion [NCBI:1339123] [REACTOME:R-HSA-6785470] [PUBMED:25806043] [PUBMED:25692999] [PUBMED:21417719] [PUBMED:26016801] [PUBMED:22137969] [PUBMED:25734984] [PUBMED:21854988] [PUBMED:21910628]