| Primary Identifier | MGI:1918007 | Organism | mouse, laboratory |
| Chromosome | 16 | NCBI Gene Number | 70757 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable enzyme binding activity and very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity. Predicted to be involved in fatty acid elongation; sphingolipid biosynthetic process; and very long-chain fatty acid biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in tibialis anterior. Orthologous to human HACD2 (3-hydroxyacyl-CoA dehydratase 2). PHENOTYPE: Homozygotes for a knock-out allele die around E9.5 and show developmental arrest, cardiovascular defects, altered mitochondrial function and structure, and accumulation of oxidized cardiolipin. Homozygotes for a hypomorphic allele die within 1-4 weeks of life from sudden growth arrest followed by cachexia and lethargy, and show hypoglycemia, hyperlactatemia, and impaired mitochondrial efficiency in the kidney and liver. [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
