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Reviewed April 2009
What is the official name of the RB1 gene?
The official name of this gene is “retinoblastoma 1.”
RB1 is the gene's official symbol. The RB1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the RB1 gene?
The RB1 gene provides instructions for making a protein called pRB. This protein acts as a tumor suppressor, which means that it regulates cell growth and keeps cells from dividing too fast or in an uncontrolled way. Under certain conditions, pRB stops other proteins from triggering DNA replication, the process by which DNA makes a copy of itself. Because DNA replication must occur before a cell can divide, tight regulation of this process controls cell division and helps prevent the growth of tumors. Additionally, pRB interacts with other proteins to influence cell survival, the self-destruction of cells (apoptosis), and the process by which cells mature to carry out special functions (differentiation).
Does the RB1 gene share characteristics with other genes?
The RB1 gene belongs to a family of genes called endogenous ligands (endogenous ligands).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the RB1 gene related to health conditions?
Where is the RB1 gene located?
Cytogenetic Location: 13q14.2
Molecular Location on chromosome 13: base pairs 48,303,747 to 48,481,890
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The RB1 gene is located on the long (q) arm of chromosome 13 at position 14.2.
More precisely, the RB1 gene is located from base pair 48,303,747 to base pair 48,481,890 on chromosome 13.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RB1?
You and your healthcare professional may find the following resources about RB1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the RB1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding RB1?
apoptosis ; cancer ; cell ; cell division ; differentiation ; DNA ; DNA replication ; gene ; inherited ; melanoma ; mutation ; osteosarcoma ; pineal ; pineal gland ; pinealoma ; protein ; retina ; tissue ; transcription ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (14 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.