Biomaterial Database

The defect in mu heavy chain disease protein GLI. 1976

E C Franklin, and B Frangione, and F Prelli

Amino acid sequence studies of muHCD protein GLI reveal the absence of the amino terminal 130 residues. The molecule starts at Ala 131 and contains Cys 140, normally involved in the H-L disulfide bridges. Except for the deletion and presumably an extra H-H disulfide bridge involving Cys 140, the remainder of the mu-chain appears normal.

UI	MeSH Term	Description	Entries
D007148	Immunoglobulin mu-Chains	The class of heavy chains found in IMMUNOGLOBULIN M. They have a molecular weight of approximately 72 kDa and they contain about 57 amino acid residues arranged in five domains and have more oligosaccharide branches and a higher carbohydrate content than the heavy chains of IMMUNOGLOBULIN G.	Ig mu Chains,Immunoglobulins, mu-Chain,Immunoglobulin mu-Chain,mu Immunoglobulin Heavy Chain,mu Immunoglobulin Heavy Chains,mu-Chain Immunoglobulins,Chains, Ig mu,Immunoglobulin mu Chain,Immunoglobulin mu Chains,Immunoglobulins, mu Chain,mu Chain Immunoglobulins,mu Chains, Ig,mu-Chain, Immunoglobulin,mu-Chains, Immunoglobulin
D006362	Heavy Chain Disease	A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.	Franklin Disease,gamma-Chain Disease,mu-Chain Disease,Franklin's Disease,Franklins Disease,Heavy Chain Diseases,gamma Chain Disease,gamma-Chain Diseases,mu Chain Disease,mu-Chain Diseases
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595	Amino Acid Sequence	The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.	Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein