Gene: CPLX1

Alternate names for this Gene: CPX-I|CPX1|EIEE63

Gene Summary: Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: complexin 1

Type of Gene: protein-coding

Gene: LOC105374339

Alternate names for this Gene:

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rs1553851860 in CPLX1;LOC105374339 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 PMID 28422131 2017 Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

rs13130280 in CPLX1;LOC105374339 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.