| Primary Identifier | MGI:1858960 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 54326 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid and very long-chain fatty acid biosynthetic process. Acts upstream of or within very long-chain fatty acid metabolic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including brain; liver; paravertebral ganglion; sensory organ; and urinary system. Orthologous to human ELOVL2 (ELOVL fatty acid elongase 2). PHENOTYPE: Mice heterozygous for a knock-out allele exhibit reduced male fertility. Mice homozygous for a KO allele exhibit male infertility associated with arrested spermatogenesis. Homozygous p.C234W mutation leads to accelerated age-related retinal degradation. [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
