Aliases for ANO6 Gene
External Ids for ANO6 Gene
Previous HGNC Symbols for ANO6 Gene
Previous GeneCards Identifiers for ANO6 Gene
This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
GeneCards Summary for ANO6 Gene
ANO6 (Anoctamin 6) is a Protein Coding gene. Diseases associated with ANO6 include Scott Syndrome and Miyoshi Muscular Dystrophy 3. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and voltage-gated chloride channel activity. An important paralog of this gene is ANO5.
UniProtKB/Swiss-Prot Summary for ANO6 Gene
Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.