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This gene encodes a protein containing a large tandem-repeat domain. The mouse ortholog of this gene has been shown to function in ciliogenesis in inner medullary collecting duct cells. Mutations in this gene have been associated with Alstrom syndrome. Alternative splice variants have been described but their full length sequences have not been determined.
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Protein Aliases: ALMS1; ALSS; Alstrom syndrome 1; Alstrom syndrome protein 1; DKFZp686A118; DKFZp686D1828; KIAA0328
Gene Aliases: ALMS1; ALSS; KIAA0328
UniProt ID: (Human) Q8TCU4
Entrez Gene ID: (Human) 7840