Sequence in raw or FASTA format:
PNKD paroxysmal nonkinesigenic dyskinesia [Homo sapiens (human)]
|Entrez Gene ID||25953|
|Full Name||paroxysmal nonkinesigenic dyskinesia|
|Synonyms||BRP17, DYT8, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].|
Paroxysmal nonkinesigenic dyskinesia, 118800 (3)
|Homo sapiens (human)||PNKD||NP_056303.3|
|Macaca mulatta (Rhesus monkey)||PNKD||XP_001089254.1|
|Canis lupus familiaris (dog)||PNKD||XP_853023.2|
|Bos taurus (cattle)||PNKD||NP_001107642.1|
|Mus musculus (house mouse)||Pnkd||NP_001034598.1|
|Rattus norvegicus (Norway rat)||Pnkd||NP_001128222.1|
|Gallus gallus (chicken)||PNKD||XP_004942937.1|
|Danio rerio (zebrafish)||pnkd||NP_001243139.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||pnkd||NP_001106490.1|
|GO:0006750||glutathione biosynthetic process||IEA|
|GO:0004416||hydroxyacylglutathione hydrolase activity||IEA|
|GO:0008270||zinc ion binding||IEA|
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.
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