RB1 gene
The RB1 gene acts as a tumor suppressor by regulating cell division, and mutations in this gene are a primary cause of retinoblastoma and several other cancers.
Normal Function
The RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumor suppressor, regulating cell growth and preventing cells from dividing too fast or in an uncontrolled way. By stopping other proteins from triggering DNA replication, pRB controls cell division and helps prevent tumor growth. It also influences cell survival, apoptosis (self-destruction), and differentiation.
Health Conditions Related to Genetic Changes
Retinoblastoma
Hundreds of mutations in the RB1 gene are linked to retinoblastoma, a rare eye cancer in children.
- Germinal retinoblastoma (40%): Mutations occur in all body cells and can be passed to the next generation. A second mutation or loss of the other RB1 copy is required for cancer to develop.
- Non-germinal retinoblastoma (60%): Mutations are somatic, occurring only in the eye, and cannot be passed to the next generation.
People with germinal retinoblastoma have an increased risk of other cancers, including pinealoma, osteosarcoma, soft tissue cancers, and melanoma.
Bladder cancer
Somatic RB1 gene mutations prevent pRB from effectively regulating cell division, leading to uncontrolled growth and tumor formation in the bladder.
Lung cancer
Somatic mutations in the RB1 gene have been found in lung cancer, rendering the pRB protein ineffective and allowing cells to divide without control.
Other cancers
Somatic RB1 mutations are associated with various other cancers, including:
- Breast cancer
- Melanoma
- Osteosarcoma
- Leukemias
Other Names for This Gene
- p105-Rb
- PP110
- PPP1R130
- RB
- RB1 gene
- RB_HUMAN
- retinoblastoma 1
- Retinoblastoma 1 (including osteosarcoma)
- Retinoblastoma-1
- Retinoblastoma-associated protein
Genomic Location
The RB1 gene is found on chromosome 13.