背景
Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which d
功能
disease:Chromosomal aberrations involving IGHG1 may be a cause of multiple myeloma [MIM:254500]. Translocation t(11;14)(q13;q32) with CCND1; translocation t(4;14)(p16.3;q32.3) with FGFR3; translocation t(6;14)(p25;q32) with IRF4.,miscellaneous:Disease protein OMM may represent an allelic form or another gamma chain subclass.,miscellaneous:Disease protein WIS is lacking most of the V region and all of the CH1 region.,miscellaneous:Disease protein ZUC lack most of the V region, all of the CH1 region, and part of the hinge compared with normal gamma-3 heavy chains.,miscellaneous:EU also differs in the amidation states of residues 155, 166, 177, 195, 198, 269, and 272 and in the order of residues 268-272.,miscellaneous:KOL also differs in the amidation states of residues 198, 267 and 272.,miscellaneous:Nie also differs in the amidation states of 35, 116, 198, 269 and 272.,miscellaneous:Nie h
