Primary Identifier | MGI:1289196 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 672511 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable ATP hydrolysis activity and ubiquitin protein ligase activity. Involved in angiogenesis; defense response to bacterium; and lipid ubiquitination. Predicted to be located in cytoplasm and lipid droplet. Predicted to be active in cytosol and nucleolus. Is expressed in genitourinary system; gut; heart; and pericardial component. Human ortholog(s) of this gene implicated in Moyamoya disease. Orthologous to human RNF213 (ring finger protein 213). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and circulating glucose level but normal glucose tolerance, insulin sensitivity, insulin plasma levels and leptin plasma levels. [provided by MGI curators] |