DISEASES

Disease-gene associations mined from literature

Literature associating CALN1 and Williams-Beuren syndrome

CALN1 [ENSP00000378690]

Calcium-binding protein 8; Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity (By similarity). May play a role in the physiology of neurons and is potentially important in memory and learning; EF-hand domain containing

Synonyms:  CALN1,  CALN1p,  hCALN1,  A4D1Z1,  E9PFU3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM