About: GBA 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
  • GBA wt Allele
rdfs:subClassOf
OMIM_Number
  • 606463
GenBank_Accession_Number
  • M19285
Semantic_Type
  • Gene or Genome
Preferred_Name
  • GBA wt Allele
EntrezGene_ID
  • 2629
HGNC_ID
  • HGNC:4177
FULL_SYN
  • Glucosidase, Beta, Acid wt AlleleSYNCI
  • GBA wt AllelePTNCI
  • GCSYNCI
  • GCBSYNCI
  • GBA1SYNCI
  • GLUCSYNCI
DEFINITION
  • Human GBA wild-type allele is located in the vicinity of 1q22 and is approximately 10 kb in length. This allele, which encodes glucosylceramidase protein, plays a role in glycolipid metabolism. Mutations in this gene are associated with Gaucher disease.NCI
DesignNote
  • Alternative splicing results in multiple transcript variants
code
  • C104422
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