DISEASES

Disease-gene associations mined from literature

Literature associating ANO3 and multifocal dystonia

ANO3 [ENSP00000256737]

Anoctamin-3; Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide (By similarity). Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity .

Synonyms:  ANO3,  ANO3p,  hANO3,  E9PKW2,  E9PQ79 ...

Linkouts:  STRING  Pharos  UniProt  OMIM