Gene: ALMS1
Alternate names for this Gene: ALSS
Gene Summary: 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.
Gene is located in Chromosome: 2
Location in Chromosome : 2p13.1
Description of this Gene: ALMS1 centrosome and basal body associated protein
Type of Gene: protein-coding