Primary Identifier | MGI:1349441 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 26922 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable nuclear receptor binding activity and signaling receptor binding activity. Predicted to be involved in fatty acid metabolic process. Predicted to act upstream of or within fatty acid biosynthetic process. Located in mitochondrion. Is expressed in submandibular gland primordium. Human ortholog(s) of this gene implicated in childhood-onset dystonia with optic atrophy and basal ganglia abnormalities and optic atrophy. Orthologous to human MECR (mitochondrial trans-2-enoyl-CoA reductase). PHENOTYPE: Homozygous mutations in this gene lead to embryonic lethality due to pleiotropic effects including abnormalities in fetal placental and cardiovascular development and embryonic growth retardation. [provided by MGI curators] |