Recombination Activating Gene 1

Recombination activating gene 1 (RAG1) encodes a protein essential for the development of adaptive immunity in vertebrates. RAG1, together with RAG2, forms the core of the V(D)J recombinase complex responsible for initiating somatic recombination of immunoglobulin and T cell receptor genes in developing B and T lymphocytes. Deficiency or mutations in RAG1 can cause severe combined immunodeficiency syndromes, including Omenn syndrome and SCID. Expression is tightly regulated and present only during specific windows of lymphocyte development.

Other names

RAG1

RAG1, along with RAG2, forms the V(D)J recombinase complex, which introduces double-strand breaks at recombination signal sequences (RSSs) flanking variable (V), diversity (D), and joining (J) gene segments to facilitate rearrangement by non-homologous end joining.