Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system.
Involvement in disease
Defects in B2M are the cause of hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]. Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation. Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.
Belongs to the beta-2-microglobulin family. Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Glycation of Ile-21 is observed in long-term hemodialysis patients.