DISEASES

Disease-gene associations mined from literature

Literature associating SYT1 and cone-rod dystrophy 7

SYT1 [ENSP00000261205]

Synaptotagmin I; May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative receptors for activated protein kinase C has also been reported. It can bind to at least three additional proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2. Plays a role in dendrite formation by melanocytes; Synaptotagmins

Synonyms:  SYT1,  SYT1p,  hSYT1,  A0A024RBE9,  C9JX50 ...

Linkouts:  STRING  Pharos  UniProt  OMIM