HIBCH (3-hydroxyisobutyryl-CoA hydrolase)

2014-11-01  

Identity

HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
HIBYLCOAH
FUSION GENES

Other Information

Locus ID:

NCBI: 26275
MIM: 610690
HGNC: 4908
Ensembl: ENSG00000198130

Variants:

dbSNP: 26275
ClinVar: 26275
TCGA: ENSG00000198130
COSMIC: HIBCH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198130ENST00000359678Q6NVY1
ENSG00000198130ENST00000359678A0A140VJL0
ENSG00000198130ENST00000392332Q6NVY1
ENSG00000198130ENST00000392333H7BYI7
ENSG00000198130ENST00000399855H7C126
ENSG00000198130ENST00000409820F8W8A6
ENSG00000198130ENST00000409934B8ZZZ0
ENSG00000198130ENST00000410045B9A058
ENSG00000198130ENST00000414928H7C400
ENSG00000198130ENST00000416732H7C1A5

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
Valine, leucine and isoleucine degradationKEGGhsa00280
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
Metabolic pathwaysKEGGhsa01100
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGhsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGM00013
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171609072007Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.25
242994522013HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
271325952016A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.17
274008042016A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.7

Citation

Dessen P

HIBCH (3-hydroxyisobutyryl-CoA hydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64263/hibch