PVRL1 ist ein Gen, das durch das Symbol NECTIN1 kodiert wird. Im Allgemeinen auch bezeichnet als: Nectin-1; Herpes virus entry mediator C; Herpesvirus entry mediator C; Herpesvirus Ig-like receptor; HIgR; Nectin cell adhesion molecule 1; Poliovirus receptor-related protein 1; NECTIN1; HVEC; PRR1. PVRL1 hat eine Masse von 57.16kDa, eine Aminosäurelänge von 517, und ist an folgenden Krankheiten beteiligt: Ectodermal dysplasia, Margarita Island type; Non-syndromic orofacial cleft 7.
Wir bieten 1 PVRL1 ELISA-Kits zum qualitativen oder quantitativen Nachweis von PVRL1 von Human proben.
Gen- und Proteininformationen
UniProt Zusammenfassung
Promotes cell-cell contacts by forming homophilic or heterophilic trans-dimers. Heterophilic interactions have been detected between NECTIN1 and NECTIN3 and between NECTIN1 and NECTIN4. Has some neurite outgrowth-promoting activity.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Ectodermal dysplasia, Margarita Island type: An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.
Non-syndromic orofacial cleft 7: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Sequenzähnlichkeiten
Belongs to the nectin family.
Zellort
Cell membrane. Cell junction > Synapse > Presynaptic cell membrane.
