IGH - immunoglobulin heavy locus Gene
Also Known as IGD1; IGH@; IGHJ; IGHV; IGHD@; IGHJ@; IGHV@; IGH.1@; IGHDY1
Species: Homo sapiens
About IGH
Summary
Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the Complement System. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Agammaglobulinemia 1, Autosomal Recessive |
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| Follicular Lymphoma |
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| Lymphoma, Mucosa-Associated Lymphoid Type |
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| Mantle Cell Lymphoma |
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| B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality |
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| Primary Central Nervous System Lymphoma |
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| Lymphosarcoma |
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| Plasmacytoma |
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| Histiocytic Sarcoma |
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| B-Lymphoblastic Leukemia/Lymphoma |
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| B-Cell Lymphoma |
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| Leukemia, Chronic Lymphocytic |
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| Precursor T-Cell Acute Lymphoblastic Leukemia |
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| Reticulosarcoma |
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| Lymphoma, Non-Hodgkin, Familial |
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| Leukemia, Acute Lymphoblastic |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | IGH | NCBI | |
| Mus musculus | IGH | NCBI | NCBI:111507 |
| Susscrofa domestica | IGH | NCBI | |
| Leporidae | IGH | NCBI | |
| Rattus norvegicus | IGH | NCBI | |
| Macaca mulatta | IGH | NCBI |