DISEASES

Disease-gene associations mined from literature

Literature associating CPLX3 and Noonan syndrome with multiple lentigines 1

CPLX3 [ENSP00000378464]

Complexin-3; Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). ; Belongs to the complexin/synaphin family.

Synonyms:  CPLX3,  CPLX3p,  hCPLX3,  A0A384N6F4,  Q8WVH0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM