Gene Symbol | ANO5 |
Entrez Gene ID | 203859 |
Full Name | anoctamin 5 |
Synonyms | GDD1,LGMD2L,TMEM16E |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Gnathodiaphyseal dysplasia, 166260 (3); Muscular dystrophy, limb-girdle, type 2L, 611307 (3); Miyoshi muscular dystrophy 3, 613319 (3) |