Gene Symbol | NECTIN1 |
Entrez Gene ID | 5818 |
Full Name | nectin cell adhesion molecule 1 |
Synonyms | CD111,CLPED1,ED4,HIgR,HV1S,HVEC,OFC7,PRR,PRR1,PVRL1,PVRR,PVRR1,SK-12,nectin-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3); Orofacial cleft 7, 225060 (3) |