DISEASES

Disease-gene associations mined from literature

Literature associating ANO6 and Scott syndrome

ANO6 [ENSP00000409126]

Small-conductance calcium-activated nonselective cation channel; 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; Anoctamins

Synonyms:  ANO6,  ANO6p,  hANO6,  F8VX71,  Q4KMQ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM