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ANO5 anoctamin 5

Also known as: GDD1; LGMD2L; TMEM16E

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, Nov 2009]

Genomic context

Location:
11p14.3
Sequence:
Chromosome: 11; NC_000011.10 (22192485..22283367)
Total number of exons:
23

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