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alms1

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Official Full Name
Alstrom syndrome 1
Background
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.
Synonyms
ALMS1; Alstrom syndrome 1; Alstrom syndrome protein 1; KIAA0328; ALSS; DKFZp686A118; DKFZp686D1828

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