NECAP1 Chromosome 12
NECAP endocytosis associated 1
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What This Gene Does
This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Associated Conditions (3)
Developmental and epileptic encephalopathy
21
NECAP1-related disorder
Key Variants
RS2231752
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 21, NECAP1-related disorder
Health Risk
RS1947531929
Pathogenic
Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy
Health Risk
RS2498155401
Pathogenic
Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy
Health Risk
RS2498172659
Pathogenic
Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy
Health Risk
RS587777420
Pathogenic/Likely pathogenic
Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2231752 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 21, NECAP1-related disorder |
| RS1947531929 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy |
| RS2498155401 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy |
| RS2498172659 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy |
| RS587777420 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 21, Developmental and epileptic encephalopathy |