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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.

Read more about gene names and symbols on the About page.

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 218,270,392 to 218,346,793

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The PNKD gene is located on the long (q) arm of chromosome 2 at position 35.

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 218,270,392 to base pair 218,346,793 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PNKD?

You and your healthcare professional may find the following resources about PNKD 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 PNKD gene or gene products?

  • brain protein 17
  • BRP17
  • DKFZp564N1362
  • DYT8
  • FKSG19
  • FPD1
  • KIAA1184
  • KIPP1184
  • MGC31943
  • MR1
  • MR-1
  • myofibrillogenesis regulator 1
  • PDC
  • PKND1

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 PNKD?

alanine ; amino acid ; dyskinesia ; expressed ; familial ; gene ; mutation ; protein ; toxic ; valine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 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.

Reviewed: September 2008
Published: February 8, 2016