DISEASES

Disease-gene associations mined from literature

Literature associating SYNGR1 and early infantile epileptic encephalopathy 4

SYNGR1 [ENSP00000332287]

Synaptogyrin 1; May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short-term and long-term synaptic plasticity (By similarity); Belongs to the synaptogyrin family.

Synonyms:  SYNGR1,  SYNGR1p,  hSYNGR1,  A2A283,  B5MCD7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM