PNKD gene

PNKD, MBL domain containing

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 may help control the release of chemicals called neurotransmitters, which allow nerve cells (neurons) to communicate with one another.

The PNKD protein 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 may perform a function similar to this protein.

At least three mutations in the PNKD gene have been shown to cause familial paroxysmal nonkinesigenic dyskinesia, which is characterized by episodes of involuntary movement. The two most common mutations, each found in several affected families, 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 at position 9 (written as Ala9Val or A9V). Research suggests that the PNKD gene 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.

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35

Molecular Location: base pairs 218,270,485 to 218,346,793 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q35, which is the long (q) arm of chromosome 2 at position 35
  • brain protein 17
  • BRP17
  • DKFZp564N1362
  • DYT8
  • FKSG19
  • FPD1
  • KIAA1184
  • KIPP1184
  • MGC31943
  • MR-1
  • MR-1S
  • MR1
  • myofibrillogenesis regulator 1
  • paroxysmal nonkinesigenic dyskinesia
  • PDC
  • PKND1