Disease-gene associations mined from literature

Literature associating TMEM30B and cerebellar ataxia, mental retardation and dysequlibrium syndrome

TMEM30B [ENSP00000450842]

P4-ATPase flippase complex beta subunit TMEM30B; Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane.

Synonyms:  TMEM30B,  TMEM30Bp,  hTMEM30B,  Q3MIR4,  CDC50B ...

Linkouts:  STRING  Pharos  UniProt