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The official name of this gene is “retinoic acid induced 1.”
RAI1 is the gene's official symbol. The RAI1 gene is also known by other names, listed below.
The RAI1 gene provides instructions for making a protein that is active in nerve cells in the brain. Although the function of this protein is unknown, it is thought to be involved in nervous system development. Within cells, the RAI1 protein may be part of a protein complex (a group of proteins that work together) that helps control the activity of certain genes.
Researchers believe that a change in the function of the RAI1 gene is responsible for most of the physical, mental, and behavioral features of Smith-Magenis syndrome. In most cases, one copy of the RAI1 gene in each cell is lost when a region of chromosome 17 that contains the gene is deleted. It is unclear how the loss of this gene leads to the characteristic signs and symptoms of this condition.
A small percentage of cases are caused by a mutation in the RAI1 gene instead of a chromosomal deletion. Although these individuals have many of the major features of Smith-Magenis syndrome (including intellectual disability, behavioral problems, and sleep disturbances), they are less likely than people with a chromosomal deletion to have short stature, hearing loss, and heart or kidney abnormalities. At least 12 RAI1 mutations have been identified in people with Smith-Magenis syndrome. These mutations lead to the production of a nonfunctional version of the RAI1 protein or reduce the amount of this protein that is produced in cells. Scientists are working to determine how a missing or abnormal RAI1 protein results in the varied features of this disorder.
Cytogenetic Location: 17p11.2
Molecular Location on chromosome 17: base pairs 17,681,472 to 17,811,452
The RAI1 gene is located on the short (p) arm of chromosome 17 at position 11.2.
More precisely, the RAI1 gene is located from base pair 17,681,472 to base pair 17,811,452 on chromosome 17.
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 RAI1 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.
cell ; chromosome ; deletion ; disability ; gene ; kidney ; mutation ; nervous system ; protein ; short stature ; stature ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.