This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined.ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein) is a Protein Coding gene. Diseases associated with ALMS1 include Alstrom Syndrome and Giant Axonal Neuropathy. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance.