Entrez gene ID | | 203859 |
Official gene symbol | | ANO5 |
Full name | | anoctamin 5 |
Aliases | | ,GDD1,LGMD2L,TMEM16E, |
Gene summary | | This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11p14.3 |
Gene position | | 22214722 - 22304913 Map Viewer |
Gene orientation | | plus |
Gene size | | 90192 bp |
Gene sequence |
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OMIM ID | | 608662 |
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