Human RB1 Knockout Cell Line-HeLa

Retinoblastoma 1, commonly referred to as RB1, is a gene that plays a key role in cell cycle regulation and is closely associated with tumorigenesis. RB1 is located on chromosome 13 (13q14.2) and encodes the retinoblastoma protein (pRB), which primarily functions as a tumor suppressor. The primary role of the retinoblastoma protein is to inhibit progression of the cell cycle from the G1 (first gap) phase to the S (synthesis) phase, where DNA replication occurs. pRB does this by binding to and inactivating the E2F transcription factor, which is essential for activating genes required for entry into the S phase. When pRB is functioning, it restricts cell growth and division, acting as a critical checkpoint to maintain cell proliferation and prevent uncontrolled growth that can lead to tumorigenesis.

Mutations or deletions in the RB1 gene can lead to a loss of pRB function, which results in uncontrolled cell division and growth. This loss of function is a key driver in the development of retinoblastoma. Children with hereditary retinoblastoma inherit one defective copy of the RB1 gene and develop cancer if the second copy mutates. Non-hereditary retinoblastoma involves somatic mutations in both copies of the RB1 gene within a single retinal cell. In addition to its role in retinoblastoma, RB1 mutations have been implicated in other types of cancer, such as osteosarcoma, small cell lung cancer, and bladder cancer. This widespread involvement highlights the importance of pRB in cellular regulation and cancer suppression.