JAM3 Antibody – Goat Polyclonal

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, the 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. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]

JAM3: Participates in cell-cell adhesion. It is a counter- receptor for ITGAM, mediating leukocyte-platelet interactions and is involved in the regulation of transepithelial migration of polymorphonuclear neutrophils (PMN). The soluble form is a mediator of angiogenesis. Defects in JAM3 are the cause of hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC). A syndrome characterized by congenital cataracts and severe brain abnormalities apparently resulting from hemorrhagic destruction of the brain tissue, including the cerebral white matter and basal ganglia. Patients manifest profound developmental delay, and other neurologic features included seizures, spasticity, and hyperreflexia. Brain imaging shows multifocal intraparenchymal hemorrhage with associated liquefaction and massive cystic degeneration, and calcification in the subependymal region and in brain tissue. Belongs to the immunoglobulin superfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell adhesion; Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q25

Cellular Component: desmosome; extracellular space; Golgi apparatus; integral to membrane; plasma membrane; tight junction

Molecular Function: integrin binding; protein binding; protein heterodimerization activity; protein homodimerization activity

Biological Process: adaptive immune response; angiogenesis; axon regeneration; cell-matrix adhesion; establishment of cell polarity; extracellular matrix organization and biogenesis; leukocyte migration; leukocyte migration during inflammatory response; myelination; myeloid progenitor cell differentiation; neutrophil homeostasis; spermatid development; transmission of nerve impulse

Disease: Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts