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].
Xu, El Refaey, Xu, Zhao, Gao, Floyd, Karaze, Janssen, Han: "Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy." in: Skeletal muscle, Vol. 5, pp. 43, (2015) (PubMed).