Full name: nectin cell adhesion molecule 4

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: EDSS1; LNIR; PRR4; PVRL4; nectin-4

Summary: 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]

Expression: Biased expression in skin (RPKM 30.6), esophagus (RPKM 23.7) and 7 other tissues

Gene size: 18561bp

Exon count: 9