Entrez gene ID | | 7840 |
Official gene symbol | | ALMS1 |
Full name | | Alstrom syndrome 1 |
Aliases | | ,ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328, |
Gene summary | | 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. |
Location | | Chromosome: 2 Locus: 2p13 |
Gene position | | 73612886 - 73837046 Map Viewer |
Gene orientation | | plus |
Gene size | | 224161 bp |
Gene sequence |
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OMIM ID | | 606844 |