ENSG00000128928
Homo sapiens | |
Features
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR006089 | Acyl-CoA dehydrogenase, conserved site | | IPR006091 | Acyl-CoA oxidase/dehydrogenase, central domain | | IPR009075 | Acyl-CoA dehydrogenase/oxidase C-terminal | | IPR009100 | Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily | | IPR013786 | Acyl-CoA dehydrogenase/oxidase, N-terminal | | IPR034183 | Isovaleryl-CoA dehydrogenase | | IPR036250 | Acyl-CoA dehydrogenase-like, C-terminal | | IPR037069 | Acyl-CoA dehydrogenase/oxidase, N-terminal domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001254 | Lethargy | |
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| | HP:0001259 | Coma | |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0001873 | Thrombocytopenia | |
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| | HP:0001876 | Pancytopenia | |
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| | HP:0001882 | Leukopenia | |
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| | HP:0001942 | Metabolic acidosis | |
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| | HP:0001944 | Dehydration | |
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| | HP:0001993 | Ketoacidosis | |
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| | HP:0002013 | Vomiting | |
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| | HP:0003108 | Hyperglycinuria | |
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| | HP:0005528 | Bone marrow hypoplasia | |
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| | HP:0011695 | Cerebellar hemorrhage | "`Hemorrhage` (MPATH:119) into the parenchyma of the cerebellum." [HPO:probinson] |
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Interacting proteins (from Reactome)
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