IGHG1

IGHG1 (Immunoglobulin Heavy Constant Gamma 1 (G1m Marker)) is a Protein Coding gene. Diseases associated with IGHG1 include Leukemia, Chronic Lymphocytic and Heavy Chain Deposition Disease. Among its related pathways are Creation of C4 and C2 activators and Role of phospholipids in phagocytosis. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is IGHG3.

Immunoglobulin heavy constant gamma 1

Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268).

The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268).

Mediates IgG effector functions on monocytes triggering ADCC of virus-infected cells.

B cell receptor signaling pathway Source: GO_Central
Complement activation, classical pathway Source: GO_Central
Defense response to bacterium Source: GO_Central
Innate immune response Source: GO_Central
Phagocytosis, engulfment Source: GO_Central
Phagocytosis, recognition Source: GO_Central
Positive regulation of B cell activation Source: GO_Central

Secreted; Cell membrane

Multiple myeloma (MM):
The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving IGHG1 is found in multiple myeloma. Translocation t(11;14)(q13;q32) with the IgH locus. 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. A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia.