Primary Identifier | MGI:1933331 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 83603 |
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. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system; eye; genitourinary system; skin; and spleen. Used to study Stargardt disease. Human ortholog(s) of this gene implicated in corneal dystrophy and spinocerebellar ataxia type 34. Orthologous to human ELOVL4 (ELOVL fatty acid elongase 4). PHENOTYPE: Mice homozygous for a null allele die before or around birth. Mice heterozygous for a null allele breed poorly and display mild retinal abnormalities. [provided by MGI curators] |