Anti-RAG1 antibody [EPRAGR1]

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

RAG1 also known as Recombination Activating Gene 1 is an enzyme that has a mass of approximately 120 kDa. It functions mechanically by initiating the V(D)J recombination process that is essential for the development of immunoglobulin and T-cell receptor gene rearrangement. RAG1 achieves this by introducing double-stranded breaks in DNA guiding the recombination events. This protein is mainly expressed in developing lymphocytes within the bone marrow and thymus playing a significant function in the adaptive immune response.

Biological function summary

The recombination process performed by RAG1 is integral to generating the diversity of antibodies and T-cell receptors which form the foundation of the adaptive immune system. RAG1 acts as part of a protein complex with RAG2 where it collaborates to recognize and bind to recombination signal sequences in the DNA. This complex facilitates the accurate cleavage necessary for recombination enabling lymphocytes to produce a wide variety of receptors capable of recognizing numerous antigens.

Pathways

RAG1 directly participates in the antigen receptor rearrangement pathway which is fundamental to the adaptive immune system. It is closely linked to the DNA repair mechanisms required for joining the broken DNA ends it creates. Key proteins involved in these pathways include RAG2 which forms a complex with RAG1 and the DNA-dependent protein kinase which mediates the repair of DNA double-strand breaks ensuring genomic stability during immune cell development.

Associated diseases and disorders

Improper function or mutations in RAG1 can result in severe combined immunodeficiency (SCID) or Omenn syndrome both of which severely impair the immune system. RAG1 mutations affect the recombination efficiency leading to decreased production of functional lymphocytes. The disorder connections extend to RAG2 as they together form the active RAG complex and defects in either can disrupt immune function highlighting the critical nature of these proteins in maintaining immune system efficacy.