Primary Identifier | MGI:1916051 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 68801 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable fatty acid elongase activity. Predicted to be involved in fatty acid biosynthetic process; positive regulation of fatty acid biosynthetic process; and sphingolipid biosynthetic process. Predicted to be located in dendritic tree; endoplasmic reticulum; and neuronal cell body. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in spinocerebellar ataxia type 38. Orthologous to human ELOVL5 (ELOVL fatty acid elongase 5). PHENOTYPE: Mice homozygous for a gene trapped allele have defects in fatty acid synthesis in the liver that result in hepatic steatosis. Also, majority of female mice have defects in female fertility. [provided by MGI curators] |