Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 26275
MIM: 610690
HGNC: 4908
Ensembl: ENSG00000198130
Variants:
dbSNP: 26275
ClinVar: 26275
TCGA: ENSG00000198130
COSMIC: HIBCH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32677093 | 2021 | Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. | 11 |
| 32677093 | 2021 | Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. | 11 |
| 31203192 | 2019 | A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism. | 5 |
| 31409769 | 2019 | Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer. | 13 |
| 31203192 | 2019 | A genetic epidemiological study in British adults and older adults shows a high heritability of the combined indicator of vitamin B(12) status (cB(12)) and connects B(12) status with utilization of mitochondrial substrates and energy metabolism. | 5 |
| 31409769 | 2019 | Targeting HIBCH to reprogram valine metabolism for the treatment of colorectal cancer. | 13 |
| 27132595 | 2016 | A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. | 28 |
| 27400804 | 2016 | A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene. | 15 |
| 27132595 | 2016 | A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. | 28 |
| 27400804 | 2016 | A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene. | 15 |
| 24299452 | 2013 | HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. | 35 |
| 24299452 | 2013 | HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. | 35 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 17160907 | 2007 | Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. | 38 |
Citation
Dessen P
HIBCH (3-hydroxyisobutyryl-CoA hydrolase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64263/hibch-(3-hydroxyisobutyryl-coa-hydrolase)
