Reviewed September 2008
What is the official name of the PNKD gene?
The official name of this gene is “paroxysmal nonkinesigenic dyskinesia.”
PNKD is the gene's official symbol. The PNKD gene is also known by other names, listed below.
What is the normal function of the PNKD gene?
Researchers have not determined the role of the PNKD gene (frequently called the MR1 gene) in the human body. This gene is highly active (expressed) in the brain, which suggests that it plays an important role in normal brain function. The protein produced from the PNKD gene is similar to another protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical is toxic to nerve cells (neurons). The PNKD protein is expected to perform a function similar to this known protein.
How are changes in the PNKD gene related to health conditions?
- familial paroxysmal nonkinesigenic dyskinesia - caused by mutations in the PNKD gene
At least two mutations in the PNKD gene have been shown to cause familial paroxysmal nonkinesigenic dyskinesia. Both mutations replace the protein building block (amino acid) alanine with the amino acid valine in the PNKD protein. One of the mutations occurs at position 7 (written as Ala7Val or A7V), and the other mutation is found at position 9 (written as Ala9Val or A9V). Research suggests that these mutations alter the structure of the PNKD protein and interfere with its ability to function. It is not known how mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia.
Where is the PNKD gene located?
Cytogenetic Location: 2q35
Molecular Location on chromosome 2: base pairs 218,270,391 to 218,346,792
The PNKD gene is located on the long (q) arm of chromosome 2 at position 35.
More precisely, the PNKD gene is located from base pair 218,270,391 to base pair 218,346,792 on chromosome 2.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about PNKD?
You and your healthcare professional may find the following resources about PNKD helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1221)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for PNKD (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=25953%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/609023)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_PNKD.html)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=25953)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=9153)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/25953)
What other names do people use for the PNKD gene or gene products?
- brain protein 17
- myofibrillogenesis regulator 1
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding PNKD?
amino acid ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology. 2007 May 22;68(21):1782-9. (http://www.ncbi.nlm.nih.gov/pubmed/17515540?dopt=Abstract)
- Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, Feleke A, Wolff J, Lipe H, Fink J, Bird TD, Raskind WH. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch Neurol. 2005 Apr;62(4):597-600. (http://www.ncbi.nlm.nih.gov/pubmed/15824259?dopt=Abstract)
- Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. Epub 2004 Oct 20. (http://www.ncbi.nlm.nih.gov/pubmed/15496428?dopt=Abstract)
- Mink JW. Paroxysmal dyskinesias. Curr Opin Pediatr. 2007 Dec;19(6):652-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18025931?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/25953)
- Rainier S, Thomas D, Tokarz D, Ming L, Bui M, Plein E, Zhao X, Lemons R, Albin R, Delaney C, Alvarado D, Fink JK. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004 Jul;61(7):1025-9. (http://www.ncbi.nlm.nih.gov/pubmed/15262732?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.