Primary Identifier | MGI:2136381 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 231086 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables acetyl-CoA C-acetyltransferase activity and lncRNA binding activity. Involved in cellular response to lipopolysaccharide and gene expression. Located in mitochondrial inner membrane. Is active in mitochondrion. Is expressed in heart; liver; placenta; and tibialis anterior. Human ortholog(s) of this gene implicated in mitochondrial metabolism disease and mitochondrial trifunctional protein deficiency 2. Orthologous to human HADHB (hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta). PHENOTYPE: Mice homozygous for an ENU-induced mutation display reduced postnatal weight gain, multifocal cardiac fibrosis and hepatic steatosis, and develop cardiac arrhythmias that range from a prolonged PR interval to complete atrioventricular dissociation and lead to sudden between 9 and 16 months of age. [provided by MGI curators] |