The defect in mu heavy chain disease protein GLI.
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.
D000595:Amino Acid Sequence; D006362:Heavy Chain Disease / Q000276:immunology*; D006801:Humans; D007148:Immunoglobulin mu-Chains / Q000032:analysis*
D007148:Immunoglobulin mu-Chains