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ATPase Type 13A2 (ATP13A2)

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PARK9; Parkinson Disease 9

ATPase Type 13A2 (ATP13A2)
CCC M666
HGNC 30213
MGI 1922022
PubMed 22647602
RGD 1307977
UniProt Q9NQ11
Wiki ATP13A2
ATP13A2 belongs to the P-type superfamily of ATPases that transport inorganic cations and other substrates across cell membranes.
Atp13a2 has at least 4 transmembrane domains in its N-terminal half and 6 transmembrane domains in its C-terminal half, and the N and C termini are cytoplasmic. The central cytoplasmic region between transmembrane domains 4 and 5 contains the catalytic phosphorylation site. Northern blot analysis detected ubiquitous expression of a 3.8-kb transcript, with strongest expression in brain. Dot blot analysis confirmed predominant expression in adult human brain and demonstrated high expression in fetal brain and all tested subregions of the adult central nervous system, including substantia nigra.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Type 13A2 (ATP13A2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Type 13A2 (ATP13A2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Type 13A2 (ATP13A2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Type 13A2 (ATP13A2) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Type 13A2 (ATP13A2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Type 13A2 (ATP13A2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Type 13A2 (ATP13A2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Type 13A2 (ATP13A2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Type 13A2 (ATP13A2) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Type 13A2 (ATP13A2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Type 13A2 (ATP13A2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Type 13A2 (ATP13A2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Type 13A2 (ATP13A2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Type 13A2 (ATP13A2) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Type 13A2 (ATP13A2) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase."Nat. Genet. 38:1184-1191(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations." Mov. Disord. 25:1929-1937(2010) [PubMed] [Europe PMC] [Abstract]
  7. "Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism."Hum. Mutat. 32:956-964(2011) [PubMed] [Europe PMC] [Abstract]
  8. "PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity."Hum. Mol. Genet. 21:1725-1743(2012) [PubMed] [Europe PMC] [Abstract]
  9. "ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease." Neurology 68:1557-1562(2007) [PubMed] [Europe PMC] [Abstract]
  10. "PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype."Neurology 70:1491-1493(2008) [PubMed] [Europe PMC] [Abstract]
  11. "Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore."Neurology 71:1727-1732(2008) [PubMed] [Europe PMC] [Abstract]
  12. "ATP13A2 variability in Parkinson disease."Hum. Mutat. 30:406-410(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability."Neurogenetics 12:33-39(2011) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis."Hum. Mol. Genet. 21:2646-2650(2012) [PubMed] [Europe PMC] [Abstract]