BRIP1 Recombinant Rabbit mAb (S-4535-79)

BRIP1, full name BRCA1-interacting protein C-terminal helicase 1, also known as FANCJ or BACH1, is an iron‑sulfur cluster‑containing DNA helicase encoded by the BRIP1 gene and belongs to the SF2 helicase superfamily. Its core function is to act as a key factor in DNA damage repair: it uses the energy provided by ATP hydrolysis to unwind various DNA substrates in the 5′→3′ direction, including duplex DNA, D‑loops, and non‑canonical secondary structures such as G‑quadruplexes, which is essential for the smooth progression of replication forks and the maintenance of genomic stability. Functionally, BRIP1 serves as an important intersection between the Fanconi anemia (FA) pathway and the homologous recombination (HR) repair pathway; it directly interacts with the BRCT domain of the breast cancer susceptibility protein BRCA1 through its C‑terminal phosphorylation sites, participating in the repair of DNA interstrand crosslinks and double‑strand breaks. Consequently, pathogenic variants in BRIP1 lead to severe consequences: biallelic mutations cause Fanconi anemia complementation group J, characterized by bone marrow failure, developmental abnormalities, and a strong predisposition to cancer; while monoallelic germline loss‑of‑function mutations or functionally impaired missense variants (BRIP1 is an ovarian cancer susceptibility gene, with approximately 75% of rare missense variants resulting in loss of function) significantly increase the risk of breast and ovarian cancers, making it of great importance in clinical oncogenetic counseling.