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Gene : ATP13A2 Homo sapiens

Name  ? ATPase cation transporting 13A2 Cytological Location  1p36.13
Brief Description  ATPase cation transporting 13A2
Description  This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
  • synonyms:
  • ATPase type 13A2,
  • HGNC:30213,
  • HSA9947,
  • CLN12,
  • CLN12,
  • OTTHUMG00000002293,
  • HSA9947,
  • ATPase 13A2,
  • KRPPD,
  • PARK9,
  • SPG78,
  • PARK9,
  • AL354615,
  • NM_022089,
  • Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome),
  • uc001baa.3,
  • ATP13A2
  • identifiers:
  • 23400,
  • ENSG00000159363,
  • ATP13A2

Genome feature

Region: gene ? Length: 26015  
Location: 1:16985958-17011972 reverse strand Cyto location: 1p36.13


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Disease

2 Diseases

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3756 SN Ps

5 Cross References

19 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results