RBL1
The RBL1 Gene: A Comprehensive Exploration
Description
The RBL1 gene, also known as retinoblastoma-like 1, is located on the human chromosome 17 and contains approximately 30 exons. It encodes a protein called p107, which belongs to the pocket protein family. Pocket proteins regulate cell cycle progression, growth, and apoptosis by binding to and inhibiting the E2F family of transcription factors.
Function
p107 primarily functions as a tumor suppressor protein by regulating the G1-S cell cycle checkpoint. It inhibits E2F transcription factors, preventing cell cycle progression from the G1 to S phase until appropriate growth signals are received. Additionally, p107 can interact with other proteins involved in DNA repair and transcriptional regulation.
Associated Diseases
Mutations or alterations in the RBL1 gene have been associated with various disorders, including:
- Retinoblastoma: A childhood eye cancer arising from the retina.
- Osteosarcoma: A bone cancer most commonly affecting adolescents.
- Soft tissue sarcomas: A group of cancers that develop from soft tissues, such as muscles, tendons, and fat.
- Chronic myeloid leukemia: A blood cancer characterized by an overproduction of abnormal white blood cells.
- Acute lymphoblastic leukemia: A blood cancer that primarily affects children and involves the rapid growth of immature lymphocytes.
Did you Know ?
Approximately 15% of retinoblastoma cases are caused by mutations in the RBL1 gene. The majority of these mutations occur in the germinal cells, meaning they are passed down from parents to offspring.
