Primary Identifier | MGI:1916115 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 68865 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within bile acid metabolic process and regulation of cholesterol metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus and cortical endoplasmic reticulum. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 38. Orthologous to human ARV1 (ARV1 homolog, fatty acid homeostasis modulator). PHENOTYPE: Nullizygous mice show reduced survivor rate, seizures, increased food intake, hyperactivity and metabolic changes including lack of weight gain, improved glucose tolerance, elevated adiponectin secretion, increased energy expenditure, reduced white fat amount, and resistance to diet-induced obesity. [provided by MGI curators] |