JAM-C Antibody – Rabbit Polyclonal

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: Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 11q25

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

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

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

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