beta 2 Microglobulin est un gène codé par le symbole B2M. D'autres noms incluent: Beta-2-microglobulin; B2M. beta 2 Microglobulin a une masse de 13.72kDa, une longueur d'acide aminé de 119, et est impliqué dans les maladies: Immunodeficiency 43; Amyloidosis 8.
Nous proposons 51 des anticorps contre beta 2 Microglobulin, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux, IP, RIA et sELISA avec des échantillons dérivés de Humain, Souris, Rat, Porcin, Poulet et Primates.
Informations sur les Gènes et les Protéines
Résumé UniProt
Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553).
Résumé Entrez
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.
Implication dans la maladie
Immunodeficiency 43: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.
Amyloidosis 8: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.
Similitudes de séquence
Belongs to the beta-2-microglobulin family.
Modification post-traductionnelle
Glycation of Ile-21 is observed in long-term hemodialysis patients.
Localisation cellulaire
Secreted. Cell surface.
Detected in serum and urine (PubMed:1336137, PubMed:7554280).
