| Primary Identifier | MGI:1934606 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 236266 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables alpha-actinin binding activity. Involved in positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including cholesterol homeostasis; neuron development; and ovulation. Predicted to be located in several cellular components, including ciliary basal body; nucleoplasm; and sperm end piece. Predicted to be active in centriole; centrosome; and cytosol. Is expressed in aorta; central nervous system; genitourinary system; gut; and sensory organ. Used to study Alstrom syndrome and obesity. Human ortholog(s) of this gene implicated in Alstrom syndrome. Orthologous to human ALMS1 (ALMS1 centrosome and basal body associated protein). PHENOTYPE: Homozygous null mice display obesity starting after puberty, hypogonadism, hyperinsulinemia, male-specific hyperglycemia, retinal dysfunction, and late-onset hearing loss. [provided by MGI curators] |