H01303 | |
H number | H01303 |
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 |
Network | - |
Gene | B2M [HSA:567] [KO:K08055] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 |