Gene Symbol | B2M |
Entrez Gene ID | 567 |
Full Name | beta-2-microglobulin |
Synonyms | IMD43 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Aug 2014]. |
Disorder MIM: | |
Disorder Html: | Immunodeficiency 43, 241600 (3); ?Amyloidosis, familial visceral, 105200 (3) |