Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Beta-2-microglobulin

The B2M gene encodes beta-2-microglobulin a serum protein found in association with the major histocompatibility complex (MHC) class I. Mutations of the gene cause autosomal recessive hypercatabolic hypoproteinemia or autosomal dominant visceral amyloidosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hypercatabolic hypoproteinemia
B2M
Hereditary renal amyloidosis
APOA1
B2M
CST3
FGA
LYZ

References:

1.

Huh GS et al. (2000) Functional requirement for class I MHC in CNS development and plasticity.

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2.

Rosa F et al. (1983) The beta2-microglobulin mRNA in human Daudi cells has a mutated initiation codon but is still inducible by interferon.

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3.

Wani MA et al. (2006) Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.

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4.

Marx JI et al. (1974) Immunology: Role of beta2-Microglobulin.

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5.

D'Urso CM et al. (1991) Lack of HLA class I antigen expression by cultured melanoma cells FO-1 due to a defect in B2m gene expression.

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6.

Zingraff JJ et al. (1990) Beta 2-microglobulin amyloidosis in chronic renal failure.

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7.

Valleix S et al. (2012) Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

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8.

Connors LH et al. (1985) In vitro formation of amyloid fibrils from intact beta 2-microglobulin.

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9.

Casey TT et al. (1986) Tumoral amyloidosis of bone of beta 2-microglobulin origin in association with long-term hemodialysis: a new type of amyloid disease.

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10.

Güssow D et al. (1987) The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit.

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11.

Gorevic PD et al. (1986) Polymerization of intact beta 2-microglobulin in tissue causes amyloidosis in patients on chronic hemodialysis.

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12.

McClure J et al. (1986) Carpal tunnel syndrome caused by amyloid containing beta 2 microglobulin: a new amyloid and a complication of long term haemodialysis.

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13.

Gejyo F et al. (1985) A new form of amyloid protein associated with chronic hemodialysis was identified as beta 2-microglobulin.

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14.

Gorevic PD et al. (1985) Beta-2 microglobulin is an amyloidogenic protein in man.

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15.

Lindblom JB et al. (1974) Beta2-microglobulin on the cell surface. Relationship to HL-A antigens and the mixed leucocyte culture reaction.

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16.

Berggård I et al. (1968) Isolation and properties of a low molecular weight beta-2-globulin occurring in human biological fluids.

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17.

Waldmann TA et al. (1969) Disorders of immunoglobulin metabolism.

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18.

Cunningham BA et al. (1973) The complete amino acid sequence of beta 2-microglobulin.

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19.

Goodfellow PN et al. (1975) The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region.

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20.

Smith M et al. (1975) Studies of the linkage relationship of beta-2-microglobulin in man-mouse somatic cell hybrids.

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21.

Goodfellow P et al. (1975) Linkage relationships of the HL-A system and beta 2 microglobulin.

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22.

Michaelson J et al. (1980) Genetic polymorphism of murine beta 2-microglobulin detected biochemically.

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23.

Robinson PJ et al. (1981) Two allelic forms of mouse beta 2-microglobulin.

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24.

Suggs SV et al. (1981) Use of synthetic oligonucleotides as hybridization probes: isolation of cloned cDNA sequences for human beta 2-microglobulin.

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25.

Cox DR et al. (1982) Assignment of the gene for beta 2-microglobulin (B2m) to mouse chromosome 2.

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26.

Margulies DH et al. (1983) Linkage of beta 2-microglobulin and ly-m11 by molecular cloning and DNA-mediated gene transfer.

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27.

Arce-Gomez B et al. (1978) The genetic control of HLA-A and B antigens in somatic cell hybrids: requirement for beta2 microglobulin.

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28.

de Sousa M et. al. (1994) Iron overload in beta 2-microglobulin-deficient mice.

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29.

Bicknell DC et al. (1994) Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.

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30.

Oliver N et al. (1978) Regional assignment of genes for mannose phosphate isomerase, pyruvate kinase-3, and beta 2-microglobulin expression on human chromosome 15 by hybridization of cells from a t(15;22) (q14;q13.3) translocation carrier.

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Update: Sept. 26, 2018