Primary Identifier | MGI:2136460 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 93747 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3-hydroxypropionyl-CoA dehydratase activity. Predicted to be involved in fatty acid beta-oxidation. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; sensory organ; and ventricle cardiac muscle. Human ortholog(s) of this gene implicated in mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. Orthologous to human ECHS1 (enoyl-CoA hydratase, short chain 1). PHENOTYPE: Mice homozygous for a null allele exhibit complete embryonic lethality. Mice heterozygous for a null allele exhibit increased kidney lipid and free fatty acid content. [provided by MGI curators] |