Primary Identifier | MGI:1925860 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 78610 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables SH3 domain binding activity and SNARE binding activity. Involved in DNA repair; chromosome segregation; and microtubule cytoskeleton organization. Acts upstream of or within SNARE complex assembly and symbiont entry into host cell. Located in phagocytic vesicle. Part of protein-containing complex. Is expressed in midgut; smooth muscle tissue; and thyroid gland. Orthologous to human UVRAG (UV radiation resistance associated). PHENOTYPE: Mice homozygous for a transposon induced knock-out allele are viable and fertile but exhibit impaired autophagic flux, autophagosome accumulation in the heart, and age-related cardiomyopathy associated with compromised cardiac function and heart inflammation. [provided by MGI curators] |