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Reviewed November 2011
What is the official name of the RAPSN gene?
The official name of this gene is “receptor-associated protein of the synapse.”
RAPSN is the gene's official symbol. The RAPSN 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 RAPSN gene?
The RAPSN gene provides instructions for making a protein called rapsyn that attaches (binds) to the different parts (subunits) of a protein found in the muscle cell membrane called acetylcholine receptor (AChR). This binding helps keep the receptor subunits together and anchors the AChR protein in the muscle cell membrane. The AChR protein plays a critical role in the normal function of the neuromuscular junction. The neuromuscular junction is the area between the ends of nerve cells and muscle cells where signals are relayed to trigger muscle movement.
How are changes in the RAPSN gene related to health conditions?
Genetics Home Reference provides information about multiple pterygium syndrome, which is also associated with changes in the RAPSN gene.
Where is the RAPSN gene located?
Cytogenetic Location: 11p11.2
Molecular Location on chromosome 11: base pairs 47,437,756 to 47,449,177
The RAPSN gene is located on the short (p) arm of chromosome 11 at position 11.2.
More precisely, the RAPSN gene is located from base pair 47,437,756 to base pair 47,449,177 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RAPSN?
You and your healthcare professional may find the following resources about RAPSN 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 RAPSN 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 RAPSN?
acetylcholine ; acids ; amino acid ; asparagine ; cell ; cell membrane ; congenital ; gene ; lysine ; muscle cell ; muscle cells ; mutation ; neuromuscular junction ; protein ; receptor ; synapse ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 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.