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PNKD paroxysmal nonkinesigenic dyskinesia [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001077399 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10
NM_015488 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_022572 Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $418.00 $369.00 10

*Business Day

Related Services

Gene Symbol PNKD
Entrez Gene ID 25953
Full Name paroxysmal nonkinesigenic dyskinesia
Synonyms BRP17, DYT8, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, TAHCCP2
General protein information
Preferred Names
probable hydrolase PNKD
Names
probable hydrolase PNKD
brain protein 17
myofibrillogenesis regulator 1
trans-activated by hepatitis C virus core protein 2
NP_001070867.1
NP_056303.3
NP_072094.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2q35

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].
Disorder

MIM: 609023

Paroxysmal nonkinesigenic dyskinesia, 118800 (3)

mRNA Protein Product Sequence Price Select
NM_001077399, 291490701 NP_001070867, 116642885 probable hydrolase PNKD isoform 3 precursor ORF Sequence $99.00
NM_015488, 116642886 NP_056303, 116642887 probable hydrolase PNKD isoform 1 precursor ORF Sequence $400.00
NM_022572, 291490702 NP_072094, 21703352 probable hydrolase PNKD isoform 2 ORF Sequence $269.00
Homo sapiens (human)PNKDNP_056303.3
Macaca mulatta (Rhesus monkey)PNKDXP_001089254.1
Canis lupus familiaris (dog)PNKDXP_853023.2
Bos taurus (cattle)PNKDNP_001107642.1
Mus musculus (house mouse)PnkdNP_001034598.1
Rattus norvegicus (Norway rat)PnkdNP_001128222.1
Gallus gallus (chicken)PNKDXP_004942937.1
Danio rerio (zebrafish)pnkdNP_001243139.1
Xenopus (Silurana) tropicalis (western clawed frog)pnkdNP_001106490.1
Process
IDNameEvidence
GO:0006750glutathione biosynthetic processIEA
Component
IDNameEvidence
GO:0005634nucleusIEA
GO:0005739mitochondrionIDA
GO:0016020membraneIDA
Function
IDNameEvidence
GO:0004416hydroxyacylglutathione hydrolase activityIEA
GO:0008270zinc ion bindingIEA
GeneCards PNKD
UniProt Q8N490
Vega OTTHUMG00000133110
MIM 609023
Ensembl ENSG00000127838
HGNC 9153
HPRD 11369

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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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