TJP1 Chromosome 15
Tight junction protein 1
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What This Gene Does
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family of proteins, and acts as a tight junction adaptor protein that also regulates adherens junctions. Tight junctions regulate the movement of ions and macromolecules between endothelial and epithelial cells. The multidomain structure of this scaffold protein, including a postsynaptic density 95/disc-large/zona occludens (PDZ) domain, a Src homology (SH3) domain, a guanylate kinase (GuK) domain and unique (U) motifs all help to co-ordinate binding of transmembrane proteins, cytosolic proteins, and F-actin, which are required for tight junction function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing|ZU5 domain containing "
Locus Type
gene with protein product
Location
15q13.1
Ensembl
ENSG00000104067
Associated Conditions (1)
TJP1-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS191973706 | Health Risk | Conflicting classifications of pathogenicity | TJP1-related disorder, TJP1-related disorder |
| RS201899316 | Health Risk | Conflicting classifications of pathogenicity | — |