ⓘ Alms1, centrosome and basal body associated protein

                                     

ⓘ Alms1, centrosome and basal body associated protein

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 maintenance 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.

                                     
  • Southampton, UK isolated ALMS1 as the single gene responsible for Alstrom syndrome. Alms1 centrosome and basal body associated protein Collin GB, Marshall
  • to involve proteins that localize to motile and or immotile primary cilia or centrosomes it is possible for ciliopathies to be associated with unexpected