Junctional adhesion molecule C is a
protein that in humans is encoded by the JAM3gene.[5]
Gene
This gene is located on the long arm of
chromosome 11 (11q25) on the Watson strand. It is 83,077 bases in length. The encoded protein is 310
amino acids long with a predicted
molecular weight of 35.02 kilodaltons.
Function
Tight junctions represent one mode of cell-to-cell adhesion in
epithelial or
endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the
paracellular space. The protein encoded by this
immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, this protein is unable to adhere to
leukocyte cell lines and only forms weak
homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family.[5]
Loss-of-function mutations in this gene cause a rare syndrome - autosomal recessive hemorrhagic destruction of the brain, subependymal calcification and congenital cataracts.[7]
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PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Phillips HM, Renforth GL, Spalluto C, et al. (2002). "Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis". Genomics. 79 (4): 475–8.
doi:
10.1006/geno.2002.6742.
PMID11944976.