beta 2-Microglobulin

Gene Synonyms:

Protein Names:

Organism:

Homo sapiens (Human)

Mass (kDa):

13715

Length (aa):

119

Sequence:

MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLNCYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRVNHVTLSQPKIVKWDRDM

Proteomics (Proteome ID):

Beta-2-microglobulin [Cleaved into: Beta-2-microglobulin form pI 5.3]

Proteomics (Chromosome):

UP000005640

Mass Spectrometry:

N/A

Function [CC]:

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). {ECO:0000269|PubMed:25356553}.

Metal Binding:

N/A

Site:

N/A

Tissue Specificity:

N/A

Disease:

Immunodeficiency 43 (IMD43) [MIM:241600]: 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. {ECO:0000269|PubMed:16549777}. Note=The disease is caused by mutations affecting the gene represented in this entry.; Amyloidosis 8 (AMYL8) [MIM:105200]: 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. {ECO:0000269|PubMed:22693999}. Note=The disease is caused by mutations affecting the gene represented in this entry. Apart from the presence of causative mutations, beta-2-microglobulin may adopt the fibrillar configuration of amyloid when its serum levels are persistently high. High beta(2)-microglobulin serum levels result in amyloidosis 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). {ECO:0000269|PubMed:22693999, ECO:0000269|PubMed:7918443}.

Mutagenesis:

MUTAGEN 79 79 D->P: Increases tendency towards amyloid formation. {ECO:0000269|PubMed:18835253}.; MUTAGEN 80 80 W->G: Decreases tendency towards amyloid formation. {ECO:0000269|PubMed:18395224, ECO:0000269|PubMed:19284997}.; MUTAGEN 80 80 W->V: Increases tendency towards amyloid formation. {ECO:0000269|PubMed:18395224, ECO:0000269|PubMed:19284997}.

Name:

Beta-2-microglobulin [Cleaved into: Beta-2-microglobulin form pI 5.3]

Class:

Subcategory:

Recombinant

Source:

Species:

Human

Amino Acid Sequence:

Tag:

Format:

Lyophilized

Formulation:

Sterile-filtered colorless solution

Formulation Concentration:

1mg/ml

Buffer Volume:

Standard

Buffer Solution:

PBS

pH:

7.4-7.5

NaCl:

Null

EDTA:

Null

Purity:

> 98%

Determined:

SDS-PAGE

Stained:

Inquire

Validated:

RP-HPLC

Storage:

-20°C

Stability:

This bioreagent is stable at 4°C (short-term) and -70°C(long-term). After reconstitution, sample may be stored at 4°C for 2-7 days and below -18°C for future use.

Preparation:

Reconstitute in sterile distilled H2O to no less than 100ug/ml; dilute reconstituted stock further in other aqueous solutions if needed. Please review COA for lot-specific instructions. Final measurements should be determined by the end-user for optimal performance.