Full name: ALMS1 centrosome and basal body associated protein

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ALSS

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. [provided by RefSeq, Apr 2014]

Expression: Broad expression in testis (RPKM 15.5), ovary (RPKM 5.0) and 21 other tissues

Gene size: 224162bp

Exon count: 23