Gene Symbol | RAG1 |
Entrez Gene ID | 5896 |
Full Name | recombination activating 1 |
Synonyms | RAG-1,RNF74 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Severe combined immunodeficiency, B cell-negative, 601457 (3); Omenn syndrome, 603554 (3); Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3) |