Primary Identifier | MGI:1858959 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 54325 |
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. Involved in ceramide biosynthetic process and establishment of skin barrier. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including genitourinary system; liver; skin; spleen; and upper jaw. Orthologous to human ELOVL1 (ELOVL fatty acid elongase 1). PHENOTYPE: Mice homozygous for a targeted allele exhibit complete neonatal lethality, abnormal skin morphology, impaired skin barrier function, decreased weight and impaired formation of very long chain fatty acids. [provided by MGI curators] |