About: PARK2 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • PARK2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 602544
GenBank_Accession_Number
  • NM_004562
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PARK2 wt Allele
UMLS_CUI
  • C2983548
EntrezGene_ID
  • 5071
HGNC_ID
  • HGNC:8607
FULL_SYN
  • Parkin GeneSYNCI
  • PARK2 wt AllelePTNCI
  • PDJSYNCI
  • PRKNSYNCI
  • AR-JPSYNCI
  • LPRS2SYNCI
  • E3 Ubiquitin Ligase Parkin GeneSYNCI
  • Parkinson Disease (Autosomal Recessive, Juvenile) 2, Parkin wt AlleleSYNCI
DEFINITION
  • NCIHuman PARK2 wild-type allele is located within 6q25.2-q27 and is approximately 1459 kb in length. This allele, which encodes E3 ubiquitin-protein ligase parkin, may be involved in the modulation of ubiquitination. Mutation of the gene is associated with Parkinson disease and may affect the development or progression of ovarian cancer.
code
  • C90312
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