DISEASES

Disease-gene associations mined from literature

Literature associating XKR8 and cerebellar ataxia, mental retardation and dysequlibrium syndrome

XKR8 [ENSP00000362991]

XK-related protein 8, processed form; Promotes phosphatidylserine exposure on apoptotic cell surface, possibly by mediating phospholipid scrambling. Phosphatidylserine is a specific marker only present at the surface of apoptotic cells and acts as a specific signal for engulfment. Has no effect on calcium-induced exposure of phosphatidylserine. Activated upon caspase cleavage, suggesting that it does not act prior the onset of apoptosis; Belongs to the XK family.

Synonyms:  XKR8,  XKR8p,  hXKR8,  Q9H6D3,  Q9H6D3p ...

Linkouts:  STRING  Pharos  UniProt