CPLX1 Chromosome 4
Complexin 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Complexins
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000168993
Associated Conditions (4)
Developmental and epileptic encephalopathy
63
4p partial monosomy syndrome
Abnormal brain morphology
Key Variants
RS371709824
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 63, 4p partial monosomy syndrome
Health Risk
RS1060499735
Likely pathogenic
Abnormal brain morphology, Developmental and epileptic encephalopathy, 63
Health Risk
RS2475059446
Likely pathogenic
Developmental and epileptic encephalopathy, 63, Developmental and epileptic encephalopathy
Health Risk
RS1553851860
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 63, Developmental and epileptic encephalopathy
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371709824 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 63, 4p partial monosomy syndrome |
| RS1060499735 | Health Risk | Likely pathogenic | Abnormal brain morphology, Developmental and epileptic encephalopathy, 63 |
| RS2475059446 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 63, Developmental and epileptic encephalopathy |
| RS1553851860 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 63, Developmental and epileptic encephalopathy |