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ANO5 / Anoctamin 5 is 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.
Gene Name: | anoctamin 5 |
Synonyms: | ANO5, Anoctamin 5, Anoctamin-5, GDD1, LGMD2L, TMEM16E, Integral membrane protein GDD1, Transmembrane protein 16E |
Target Sequences: | Q75V66 Q75V66 |
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