NECTIN4/PVRL4 Antibody – Monoclonal

This gene encodes a member of the nectin family. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]

nectin 4: Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with PVRL2/nectin-1. Does not act as receptor for alpha-herpesvirus entry into cells. Defects in PVRL4 are the cause of ectodermal dysplasia- syndactyly syndrome type 1 (EDSS1). EDSS1 is a form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating. Belongs to the nectin family.

Protein type: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: adherens junction; plasma membrane; integral to membrane

Molecular Function: protein binding

Biological Process: intercellular junction assembly and maintenance; viral reproduction; cell adhesion

Disease: Ectodermal Dysplasia-syndactyly Syndrome 1