|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “recombination signal binding protein for immunoglobulin kappa J region.”
RBPJ is the gene's official symbol. The RBPJ gene is also known by other names, listed below.
The RBPJ gene provides instructions for making a protein called RBP-J, which is an integral part of a signaling pathway known as the Notch pathway. Notch signaling controls how certain types of cells develop in the growing embryo, including those that form the bones, heart, muscles, nerves, and blood. Signaling through the Notch pathway stimulates the RBP-J protein to attach (bind) to specific regions of DNA and control the activity of genes that play a role in cellular development.
Mutations in the RBPJ gene lead to Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. These mutations change single protein building blocks in the RBP-J protein, altering the region of the protein that normally binds to DNA. The altered proteins are unable to bind to DNA, preventing the activation of particular genes. These changes in gene activity impair the proper development of the skin on the top of the head and the bones in the hands and feet. It is unclear why impaired development primarily affects these tissues.
Cytogenetic Location: 4p15.2
Molecular Location on chromosome 4: base pairs 26,163,493 to 26,435,130
The RBPJ gene is located on the short (p) arm of chromosome 4 at position 15.2.
More precisely, the RBPJ gene is located from base pair 26,163,493 to base pair 26,435,130 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about RBPJ helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
arthritis ; carcinoma ; DNA ; embryo ; gene ; immunoglobulin ; protein ; renal ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.