The NECAP2 gene encodes a protein belonging to the adaptin-ear-binding coat-associated protein family. As the protein has not yet been fully characterized, current knowledge of its function is mainly inferred from studies on its orthologs. Research on rat brain clathrin-coated vesicles helped identify a role for Necap2 in clathrin-mediated endocytosis and vesicle-mediated protein transport. The protein was found to contain a WVQF motif that helped mediate its interaction with AP2A1, a subunit of the AP-2 complex.
The NECAP2 gene is located on the short arm of chromosome 1. It spans a length of 19.4 kb of DNA and its coding sequence is spread across 10 exons. The gene encodes a 28.3 kDa protein product composed of 263 amino acids. Several additional isoforms of the NECAP2 protein exist due to alternatively spliced transcript variants. The gene is widely expressed in the human body, including the intestine, liver, spleen, eye, nervous system and lung.
Monies et al. (2017) described the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient suffering from global developmental delay and cataract was subjected to whole exome sequencing. This helped identify a homozygous mutation (c.212C>A, p.A71D) in exon 3 of the patient’s NECAP2 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant located within the autozygome and was predicted to be deleterious; and mutations in its paralog gene, NECAP1, have been implicated in global developmental delay. Additional studies are required to independently confirm this association.
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