Disease-gene associations mined from literature

Literature associating SV2C and alternating hemiplegia of childhood

SV2C [ENSP00000423541]

Synaptic vesicle glycoprotein 2C; Plays a role in the control of regulated secretion in neural and endocrine cells, enhancing selectively low-frequency neurotransmission. Positively regulates vesicle fusion by maintaining the readily releasable pool of secretory vesicles (By similarity).

Synonyms:  SV2C,  SV2Cp,  hSV2C,  B3KT41,  Q496J9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM