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Entrez gene ID | 5818 |
Official gene symbol | PVRL1 |
Full name | poliovirus receptor-related 1 (herpesvirus entry mediator C) |
Aliases | ,CD111,CLPED1,ED4,HIgR,HVEC,MGC142031,MGC16207,OFC7,PRR,PRR1,PVRR,PVRR1,SK-12,nectin-1, |
Gene 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] |
Location | Chromosome: 11 Locus: |
Gene position | 119599435 - 119508808 Map Viewer |
OMIM ID | 600644 |