| Primary Identifier | MGI:2135593 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 97212 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables long-chain-3-hydroxyacyl-CoA dehydrogenase activity. Acts upstream of or within fatty acid beta-oxidation and response to insulin. Located in mitochondrial inner membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in mitochondrial trifunctional protein deficiency 1 and steatotic liver disease. Orthologous to human HADHA (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha). PHENOTYPE: Mice homozygous for disruptions in this gene die within 36 hours with hypoglycemia and liver steatosis. Liver steatosis and insulin resistance develop in heterozygotes with age. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
