B2M cDNA Clone – Beta-2-Microglobulin (Human)

This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]

B2M: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Heterodimer of an alpha chain and a beta chain. Beta-2- microglobulin is the beta-chain of major histocompatibility complex class I molecules. Polymers of beta 2-microglobulin can be found in tissues from patients on long-term hemodialysis. Belongs to the beta-2-microglobulin family.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 15q21.1

Cellular Component: cytoplasm; early endosome membrane; endoplasmic reticulum lumen; extracellular region; extracellular space; focal adhesion; Golgi apparatus; Golgi membrane; membrane; phagocytic vesicle membrane; plasma membrane

Molecular Function: glycoprotein binding; identical protein binding; protein binding

Biological Process: antibacterial humoral response; antigen processing and presentation of endogenous peptide antigen via MHC class I; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; antigen processing and presentation of peptide antigen via MHC class I; cellular protein metabolic process; defense response to Gram-negative bacterium; defense response to Gram-positive bacterium; innate immune response; iron ion homeostasis; positive regulation of protein binding; positive regulation of receptor-mediated endocytosis; positive regulation of T cell cytokine production; regulation of defense response to virus by virus; regulation of immune response; retinal homeostasis

Disease: Amyloidosis, Familial Visceral; Hypoproteinemia, Hypercatabolic