ALMS1, Official Symbol ALMS1provided by HGNC Official Full Name ALMS1 centrosome and basal body associated proteinprovided by HGNC Primary source HGNC:HGNC:428 See related Ensembl:ENSG00000116127 MIM:606844; AllianceGenome:HGNC:428 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Annotation information Annotation category: suggests misassembly Expression Broad expression in testis (RPKM 15.5), ovary (RPKM 5.0) and 21 other tissues See more Orthologs mouse all