NECAP1

Chr 12AR

NECAP endocytosis associated 1

Also known as: DEE21, EIEE21

NCBI Gene: 25977 ENSG00000089818 UniProt: Q8NC96 OMIM: 611623

The encoded protein localizes to clathrin-coated vesicles and binds adapter protein complexes to facilitate endocytosis. Loss-of-function mutations cause developmental and epileptic encephalopathy 21, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disrupted endocytosis due to impaired clathrin-coated vesicle function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 21MIM #615833

Clinical highlights

Gene-disease validity (ClinGen)

genetic developmental and epileptic encephalopathy · ARModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.65

LOEUF

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Mechanism