RB1
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RB1 (retinoblastoma 1 (including osteosarcoma)) is a human gene that belongs to a class of genes known as tumor suppressor genes. Like other tumor suppressor genes, RB1 regulates the cycle of cell division by keeping cells from growing and dividing too rapidly or in an uncontrolled way. The RB1 protein is located in cell nuclei throughout the body. This protein stops certain other proteins from triggering the process by which DNA makes a copy of itself (DNA replication). The RB1 protein may also play a role in the process by which cells mature to carry out special functions (differentiation), cell survival, and programmed cell death (apoptosis).
The RB1 gene is located on the long (q) arm of chromosome 13 at position 14.2, from base pair 47,775,911 to base pair 47,954,022.
Related conditions
Variations of the RB1 gene lead to an increased risk of developing retinoblastoma, which is a rare type of eye cancer that usually affects young children. More than 600 mutations in the RB1 gene have been identified in people with retinoblastoma. Most of these RB1 mutations prevent the gene from producing any functional protein. Without the RB1 protein, cells are unable to effectively regulate cell division and may divide uncontrollably to form a tumor.Inherited mutations in the RB1 gene also increase the risk of developing several other cancers. Specifically, people with retinoblastoma are more likely to develop pinealoma (a cancer of the pineal gland in the brain), a type of bone cancer called osteosarcoma, soft tissue cancers, and a form of skin cancer called melanoma.
Bladder cancer is associated with the RB1 gene. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are called somatic mutations and are not inherited. Somatic mutations that inactivate the RB1 gene have been reported in some cases of bladder cancer. Mutations in RB1 are thought to contribute to the development of bladder cancer, and can help predict whether tumors will grow rapidly and spread to other tissues.
Other cancers: In addition to bladder cancer, somatic mutations in the RB1 gene are associated with many other types of cancer in humans. For example, changes in the RB1 gene have been reported in some cases of lung cancer, osteosarcoma, and melanoma. These mutations inactivate the RB1 protein so it cannot regulate cell division.
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