NECAP1 NECAP endocytosis associated 1
Gene ID: 25977, updated on 11-Apr-2024Gene type: protein coding
Also known as: DEE21; EIEE21
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- Go to complete Gene record for NECAP1
- Go to Variation Viewer for NECAP1 variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Developmental and epileptic encephalopathy, 21 | See labs |
Genomic context
- Location:
- 12p13.31
- Sequence:
- Chromosome: 12; NC_000012.12 (8082274..8097881)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NECAP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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