HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)

2009-09-01  

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

Other Information

Locus ID:

NCBI: 3028
MIM: 300256
HGNC: 4800
Ensembl: ENSG00000072506

Variants:

dbSNP: 3028
ClinVar: 3028
TCGA: ENSG00000072506
COSMIC: HSD17B10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072506ENST00000168216Q99714
ENSG00000072506ENST00000168216A0A0S2Z410
ENSG00000072506ENST00000375298Q5H928
ENSG00000072506ENST00000375304Q99714

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Alzheimer's diseaseKEGGko05010
Valine, leucine and isoleucine degradationKEGGhsa00280
Alzheimer's diseaseKEGGhsa05010
Metabolic pathwaysKEGGhsa01100
Gene ExpressionREACTOMER-HSA-74160
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895
tRNA processingREACTOMER-HSA-72306
tRNA processing in the mitochondrionREACTOMER-HSA-6785470
tRNA modification in the mitochondrionREACTOMER-HSA-6787450
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
150875492004ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.392
150875492004ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease.392
156650362005ABAD enhances Abeta-induced cell stress via mitochondrial dysfunction.93
182522232008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.68
242442762013Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.29
1269602120032-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.28
200774262010A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.26
245490422014Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts.24
250077022014Roles of 17β-hydroxysteroid dehydrogenase type 10 in neurodegenerative disorders.23
172361422007The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.19

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