| 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 7.0.0) 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 act upstream of or within fatty acid biosynthetic process. Predicted to be located in endoplasmic reticulum. 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
