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Paroxysmal Nonkinesiogenic Dyskinesia (PNKD)

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MR1; PDC; BRP17; DYT8; FKSG19; FPD1; MR-1; TAHCCP2; Myofibrillogenesis Regulator 1; Probable hydrolase PNKD; Trans-activated by hepatitis C virus core protein 2

Paroxysmal Nonkinesiogenic Dyskinesia (PNKD)
CCC M038
HGNC 9153
MGI 1930773
PubMed 8659518
UniProt Q8N490
Wiki PNKD
The transcript contains a repetitive sequence in the 3-prime UTR, and the deduced 380-amino acid protein shares 43% identity over 260 amino acids with human hydroxyacylglutathione hydrolase (HAGH). RT-PCR ELISA detected KIAA1184 expression in all tissues and specific brain regions examined. Highest expression was in adult brain, followed by fetal brain, skeletal muscle, and ovary, with lower expression in spleen, heart, testis, lung, liver, kidney, fetal liver, and pancreas. Specific brain regions showed intermediate to high expression, with the highest level in cerebellum.
MR1L results in a 385-amino acid protein with a molecular mass of 42.9 kD and that MR1M results in a 361-amino acid protein with a molecular mass of 40.7 kD.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) CLIA Kit Customized Service Offer
n/a ELISA Kit for Paroxysmal Nonkinesiogenic Dyskinesia (PNKD) ELISA Kit Customized Service Offer
  1. "Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle."Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study."World J. Gastroenterol. 10:1746-1749(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
  8. "Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia."Neurology 66:1588-1590(2006) [PubMed] [Europe PMC] [Abstract]
  9. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  10. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  13. "Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis."Arch. Neurol. 61:1025-1029(2004) [PubMed] [Europe PMC] [Abstract]
  14. "The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway."Hum. Mol. Genet. 13:3161-3170(2004) [PubMed] [Europe PMC] [Abstract]
  15. "Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds."Arch. Neurol. 62:597-600(2005) [PubMed] [Europe PMC] [Abstract]
  16. "Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation."Mov. Disord. 21:2010-2015(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia."Neurosci. Lett. 402:118-120(2006) [PubMed] [Europe PMC] [Abstract]