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).
Immunodeficiency 43
IMD43
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Amyloidosis, hereditary systemic 6
AMYLD6
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry. Apart from the presence of causative mutations, beta-2-microglobulin may adopt the fibrillar configuration of amyloid, resulting in amyloidosis, when its serum levels are persistently high, as seen in patients on long-term hemodialysis (PubMed:7918443). In contrast to patients with dialysis-related amyloidosis, patients with hereditary amyloidosis have normal circulating concentrations of beta2-microglobulin (PubMed:22693999).
Glycation of Ile-21 is observed in long-term hemodialysis patients.
Belongs to the beta-2-microglobulin family.
CDABP0092, HDCMA22P, B2M, Beta-2-microglobulin
Proteins
Immuno-oncology
13715Da
We found 56 products in 3 categories
ab237032
Anti-beta 2 Microglobulin antibody [EPR21752-214] - BSA and Azide free
ab214769
Anti-beta 2 Microglobulin antibody [EP2978Y] - BSA and Azide free