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The PRRT gene family includes genes that provide instructions for making proteins called proline-rich transmembrane (PRRT) proteins. These proteins have certain regions called transmembrane domains that span the membrane surrounding cells, such that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell.
Other regions of PRRT proteins, called proline-rich regions, have an abundance of the protein building block (amino acid) proline. Because of the structure of this amino acid, proline-rich regions allow PRRT proteins to interact with other proteins.
Little is known about the function of proteins produced from genes in the PRRT gene family. At least two, PRRT1 and PRRT2, seem to be involved in signaling between nerve cells (neurons) in the brain. Mutations in the PRRT2 gene can cause several neurological conditions that involve involuntary movements, paralysis, or both, including familial paroxysmal kinesigenic dyskinesia and familial hemiplegic migraine.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.
Genetics Home Reference summarizes the normal function and health implications of this member of the PRRT gene family: PRRT2.
Genetics Home Reference includes these conditions related to genes in the PRRT gene family:
amino acid ; cell ; dyskinesia ; familial ; gene ; hemiplegic ; involuntary ; migraine ; neurological ; proline ; protein ; transmembrane
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
These sources were used to develop the Genetics Home Reference summary for the PRRT gene family.
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.