NECAP1 gene

NECAP endocytosis associated 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in endocytosis.

From NCBI Gene:

  • Early infantile epileptic encephalopathy 21

From UniProt:

Epileptic encephalopathy, early infantile, 21 (EIEE21): A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia. [MIM:615833]

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31

Molecular Location: base pairs 8,082,211 to 8,097,777 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
  • EIEE21