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 8.0.0) 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 ciliary basal body. Predicted to be active in centriole; centrosome; and cytosol. Is expressed in several structures, including 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] |