Gene Symbol | NECTIN4 |
Entrez Gene ID | 81607 |
Full Name | nectin cell adhesion molecule 4 |
Synonyms | EDSS1,LNIR,PRR4,PVRL4,nectin-4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3) |