ALMS1 centrosome and basal body associated protein (ALMS1)

ALMS1 centrosome and basal body associated protein (ALMS1) is a large (~0.5 megadalton) protein that localizes predominantly to the base of centrioles and the basal body of primary cilia. Its precise cellular functions are not fully characterized, but ALMS1 is implicated in the maintenance and function of cilia, centrosome cohesion, actin cytoskeleton organization, intracellular trafficking (including GLUT4 recycling), and possibly transcriptional regulation. Mutations in ALMS1 are responsible for Alström syndrome, a rare autosomal recessive childhood-onset disorder characterized by progressive multi-organ dysfunction, including retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes, cardiomyopathy, renal and hepatic disease, and fibrosis. ALMS1 defects are considered ciliopathies, linking the protein to other disorders of ciliary dysfunction. Although some evidence points to roles in cell cycle regulation and vascular/renal physiology, there are no approved drugs that directly target ALMS1. Diagnosis typically relies on genetic analysis of ALMS1 mutations and clinical syndrome recognition[2][3][5][6][7].

Other names

Alstrom syndrome protein 1Centrosome-associated protein ALMS1KIAA0328ALSSAlstrom syndrome 1

None known (No drugs or small molecules act directly upon ALMS1; mechanistic studies are ongoing.)