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ATPase type 13A2
Identifiers
Symbols ATP13A2; HSA9947; KRPPD; PARK9
External IDs OMIM610513 MGI1922022 HomoloGene56940 GeneCards: ATP13A2 Gene
RNA expression pattern
PBB GE ATP13A2 218608 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23400 74772
Ensembl ENSG00000159363 n/a
UniProt Q9NQ11 n/a
RefSeq (mRNA) NM_022089 NM_029097
RefSeq (protein) NP_071372 NP_083373
Location (UCSC) Chr 1:
17.19 - 17.21 Mb
n/a
PubMed search [1] [2]

Probable cation-transporting ATPase 13A2 is an enzyme that in humans is encoded by the ATP13A2 gene.[1][2][3]

References

  1. ^ Schultheis PJ, Hagen TT, O'Toole KK, Tachibana A, Burke CR, McGill DL, Okunade GW, Shull GE (Sep 2004). "Characterization of the P5 subfamily of P-type transport ATPases in mice". Biochem Biophys Res Commun 323 (3): 731-8. doi:10.1016/j.bbrc.2004.08.156. PMID 15381061.  
  2. ^ Ramirez A, Heimbach A, Grundemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C (Sep 2006). "Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase". Nat Genet 38 (10): 1184-91. doi:10.1038/ng1884. PMID 16964263.  
  3. ^ "Entrez Gene: ATP13A2 ATPase type 13A2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23400.  

Further reading

  • Hampshire DJ, Roberts E, Crow Y, et al. (2002). "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.". J. Med. Genet. 38 (10): 680–2. doi:10.1136/jmg.38.10.680. PMID 11584046.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  
  • Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.  
  • Di Fonzo A, Chien HF, Socal M, et al. (2007). "ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.". Neurology 68 (19): 1557–62. doi:10.1212/01.wnl.0000260963.08711.08. PMID 17485642.  
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