DISEASES

Disease-gene associations mined from literature

Literature associating CPLX1 and Wolf-Hirschhorn syndrome

CPLX1 [ENSP00000305613]

Complexin 1; Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Organizes the SNAREs into a cross-linked zigzag topology that, when interposed between the vesicle and plasma membranes, is incompatible with fusion, thereby preventing SNAREs from releasing neurotransmitters until an action potential arrives at the synapse. Also involved in glucose-induced secretion of insulin by pancreatic beta-cells. Essential for motor behavior.

Synonyms:  CPLX1,  CPLX1p,  hCPLX1,  D6RAG3,  D6RI11 ...

Linkouts:  STRING  Pharos  UniProt  OMIM