DISEASES

Disease-gene associations mined from literature

Literature associating CLVS1 and CHARGE syndrome

CLVS1 [ENSP00000428402]

Clavesin-1; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5- bisphosphate (PtdIns(3,5)P2).

Synonyms:  CLVS1,  CLVS1p,  hCLVS1,  A0A1D5RMS6,  E5RI68 ...

Linkouts:  STRING  Pharos  UniProt