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Details of HIBCH gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| HIBCH | --- | Q6NVY1 | HIBCH_HUMAN | 26275 | ENSG00000198130 | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| HIBCH deficiency (HIBCHD) [MIM:250620]: The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life. Note=The disease is caused by mutations affecting the gene represented in this entry. | 250620 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal facial shape, Abnormality of amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of head and neck, Abnormality of metabolism/homeostasis, Abnormality of skeletal morphology, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the face, Abnormality of the forebrain, Abnormality of the genitourinary system, Abnormality of the head, Abnormality of the heart, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of the vertebral column, Abnormality of urine homeostasis, Aciduria, Agenesis of corpus callosum, All, Aminoaciduria, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal recessive inheritance, Conotruncal defect, Dysplastic corpus callosum, Malformation of the heart and great vessels, Mode of inheritance, Morphological abnormality of the central nervous system, Phenotypic abnormality, Tetralogy of Fallot.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Hibch | CG5044 | F09F7.4 | Sp-Hibch | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| HIBCH | ACOT9 | 0.995137518 | HIBCH | ACOT9 | cpx106; cpx104 | no | yes | no | Known |
| HIBCH | CAB39 | 0.167186236 | HIBCH | CAB39 | cpx104 | no | no | no | Novel |
| HIBCH | CLIC1 | 0.746472274 | HIBCH | CLIC1 | cpx106 | no | yes | no | Known |
| HIBCH | CLIC5 | 0.781459937 | HIBCH | CLIC5 | cpx104; cpx106 | no | yes | no | Known |
| NEDD8 | HIBCH | 0.175983925 | NEDD8 | HIBCH | cpx104 | no | no | no | Novel |
| C12orf10 | HIBCH | 0.982177013 | C12orf10 | HIBCH | cpx106 | no | yes | no | Known |
| ECI1 | HIBCH | 0.188235719 | ECI1 | HIBCH | cpx104 | no | no | no | Novel |
| HIBCH | LSM12 | 0.199720689 | HIBCH | LSM12 | cpx104 | no | no | no | Novel |
| HIBCH | ALDH6A1 | 0.247196441 | HIBCH | ALDH6A1 | cpx106 | no | no | no | Novel |
| HIBCH | UMPS | 0.84222764 | HIBCH | UMPS | cpx106 | no | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| PSME3 | HIBCH | 0.158099784 | PSME3 | HIBCH |
| ALDH7A1 | HIBCH | 0.07942366 | ALDH7A1 | HIBCH |
| PPA2 | HIBCH | 0.110324937 | PPA2 | HIBCH |
| HIBCH | PRCP | 0.087571288 | HIBCH | PRCP |
| DSTN | HIBCH | 0.074968219 | DSTN | HIBCH |
| SOD1 | HIBCH | 0.167786402 | SOD1 | HIBCH |
| HIBCH | HNRNPH1 | 0.084466403 | HIBCH | HNRNPH1 |
| HIBCH | NME2 | 0.193768984 | HIBCH | NME2 |
| HIBCH | CLIC4 | 0.78071174 | HIBCH | CLIC4 |
| HIBCH | UFM1 | 0.134219182 | HIBCH | UFM1 |
| FH | HIBCH | 0.07120009 | FH | HIBCH |
| HIBCH | HNRNPH2 | 0.073307074 | HIBCH | HNRNPH2 |
| ACADM | HIBCH | 0.149153381 | ACADM | HIBCH |