PNKD : PNKD metallo-beta-lactamase domain containing
Description
The PNKD (PNKD metallo-beta-lactamase domain containing) is a protein-coding gene located on chromosome 2.
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.
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
PNKD is also known as BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2.
Associated Diseases
- Paroxysmal non-kinesigenic dyskinesia
- Paroxysmal nonkinesigenic dyskinesia 1
- Familial paroxysmal nonkinesigenic dyskinesia
