Aliases for ANO5 Gene
External Ids for ANO5 Gene
Previous HGNC Symbols for ANO5 Gene
Previous GeneCards Identifiers for ANO5 Gene
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]
GeneCards Summary for ANO5 Gene
ANO5 (Anoctamin 5) is a Protein Coding gene. Diseases associated with ANO5 include Gnathodiaphyseal Dysplasia and Miyoshi Muscular Dystrophy 3. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO6.
UniProtKB/Swiss-Prot Summary for ANO5 Gene
Does not exhibit calcium-activated chloride channel (CaCC) activity.