Disease-gene associations mined from literature

Literature associating AGAP1 and COL4A1-related familial vascular leukoencephalopathy

AGAP1 [ENSP00000307634]

Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1; GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system; Belongs to the centaurin gamma-like family.

Synonyms:  AGAP1,  AGAP1p,  hAGAP1,  C9J8Z2,  CENTG2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM