Primary Identifier | MGI:1354713 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 50790 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables long-chain fatty acid-CoA ligase activity. Acts upstream of or within embryonic process involved in female pregnancy. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; limb mesenchyme; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in intellectual disability and non-syndromic X-linked intellectual disability 63. Orthologous to human ACSL4 (acyl-CoA synthetase long chain family member 4). PHENOTYPE: Female heterozygotes for a targeted null mutation exhibit accumulation of prostaglandins in the uterus, reduced fertility with few and small litters, and very low transmission of the mutant allele. [provided by MGI curators] |