KEGG   DISEASE: Hypercatabolic hypoproteinemia
Entry
H01303                      Disease                                
Name
Hypercatabolic hypoproteinemia
Description
Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin (B2M) that binds two ligands, IgG and albumin. It has been suggested that a mutation in B2M gene causes this disease.
Category
Hematologic disease
Pathway
hsa04612  Antigen processing and presentation
Gene
B2M [HSA:567] [KO:K08055]
Other DBs
OMIM: 241600
Reference
PMID:16549777
  Authors
Wani MA, Haynes LD, Kim J, Bronson CL, Chaudhury C, Mohanty S, Waldmann TA, Robinson JM, Anderson CL
  Title
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
  Journal
Proc Natl Acad Sci U S A 103:5084-9 (2006)
DOI:10.1073/pnas.0600548103
Reference
PMID:2254461
  Authors
Waldmann TA, Terry WD
  Title
Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.
  Journal
J Clin Invest 86:2093-8 (1990)
DOI:10.1172/JCI114947
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