The molecular defect in a protein (CRA) found in gamma-1 heavy chain disease, and its genetic implications.
A gamma1 protein, designated CRA, found in heavy chain disease contains three inter-heavy disulfide bridges instead of the two normally found in gamma1 immunoglobulin heavy chains. Almost the entire Fd fragment is missing. The NH(2) terminal region is heterogeneous and contains carbohydrate; after 11 residues that do not resemble any of the known heavy-chain variable-region subclasses, normal synthesis seems to be resumed at the same amino acid residue as in another heavy-chain disease protein (ZUC). This finding raises the possibility that glutamic acid at position 216 represents the beginning of the Fe region, synthesized under the direction of another gene.
D000595:Amino Acid Sequence; D001797:Blood Protein Electrophoresis; D002850:Chromatography, Gel; D003486:Cyanides; D003545:Cysteine; D005796:Genes; D006362:Heavy Chain Disease / Q000235:genetics*; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007125:Immunogenetics; D007136:Immunoglobulins / Q000032:analysis; D010434:Pepsin A; D010455:Peptides / Q000032:analysis*; D014357:Trypsin; D005719:gamma-Globulins / Q000032:analysis*
D003486:Cyanides; D007136:Immunoglobulins; D010455:Peptides; D005719:gamma-Globulins; D014357:Trypsin; D010434:Pepsin A; D003545:Cysteine