beta 2 Microglobulin è un gene codificato dal simbolo B2M. Altri nomi includono: Beta-2-microglobulin; B2M. beta 2 Microglobulin ha una massa di 13.72kDa, una lunghezza di amminoacidi di 119, ed è implicato nella malattia: Immunodeficiency 43; Amyloidosis 8.
Offriamo 9 beta 2 Microglobulin ELISA kit per il rilevamento qualitativo o quantitativo di beta 2 Microglobulin da campioni di Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the beta-2-microglobulin family.
Modifica post-translazionale
Glycation of Ile-21 is observed in long-term hemodialysis patients.
Posizione cellulare
Secreted. Cell surface.
Detected in serum and urine (PubMed:1336137, PubMed:7554280).