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Beschreibung

Anoctamin-5 (UniProt Q75V66, also known as Gnathodiaphyseal dysplasia 1 protein, Integral membrane protein GDD1, Transmembrane protein 16E) is encoded by the ANO5 (also known as GDD1, LGMD2L, TMEM16E) gene (Gene ID 203859) in human. The human Anoctamins (ANO) compose a family of at least ten proteins, all exhibiting eight transmembrane domains and a DUF590 domain of unknown function. The ANO1, ANO2, ANO6, ANO8, and ANO9 are characterized to code for the elusive calcium-activated chloride channels (CaCCs). While the physiological function of anoctamin-5 is not yet characterized, dominant mutations in ANO5 have been found in the rare skeletal disorder gnathodiaphyseal dysplasia. In addition, recessive mutations in ANO5 are found to cause proximal muscular dystrophy (LGMD2L) and distal Miyoshi myopathy (MMD3).