PNKD

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.

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.