| Modification Notes |
ALMS1 (Alström syndrome protein 1), or ALSS, is a widely expressed protein that localizes to centrosomes and the basal bodies of cilia. It consists of a putative leucine zipper, a tandem repeat domain and a stretch of 17 glutamine residues followed by 7 alanine residues near the N-terminal. Three ALMS1 isoforms exist due to splicing variation. The first isoform is the full length ALMS1. Isoform 2 lacks amino acids 4121-4167. The third isoform is only 3858 amino acids long and it contains an alternate sequence for amino acids 3850-3858. ALMS1 may play a role in intracellular transport, microtubule organization and basal body and cilia function. A mutation in the gene encoding ALMS1 results in the dysfunction of basal bodies and/or cilia. This dysfunction is suggested to be the cause of Alström syndrome, a rare autosomal-recessive condition. Symptoms include insulin resistance, type 2 diabetes and obesity. |