Gene: B2M

Alternate names for this Gene: IMD43

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.1

Description of this Gene: beta-2-microglobulin

Type of Gene: protein-coding

rs398122820 in B2M gene and Amyloidosis, familial visceral PMID 22693999 2012 Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.