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Ano5 does not exhibit calcium-activated chloride channel (CaCC) activity. The Ano5 gene encodes a member of the anoctamin family of transmembrane proteins. The Ano5 protein is likely a calcium activated chloride channel. Mutations in the Ano5 gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described for Ano5. Diseases associated with ANO5 include Gnathodiaphyseal Dysplasia and Miyoshi Muscular Dystrophy 3.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Anoctamin-5; Gnathodiaphyseal dysplasia 1 protein; Gnathodiaphyseal dysplasia 1 protein homolog; integral membrane protein GDD1; Transmembrane protein 16E
基因别名: 9330162L24; ANO5; GDD1; LGMD2L; TMEM16E
UniProt ID: (Human) Q75V66, (Mouse) Q75UR0
Entrez Gene ID: (Human) 203859, (Mouse) 233246