About: PFKM 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
  • PFKM wt Allele
rdfs:subClassOf
OMIM_Number
  • 610681
GenBank_Accession_Number
  • M26066
Semantic_Type
  • Gene or Genome
Preferred_Name
  • PFKM wt Allele
EntrezGene_ID
  • 5213
HGNC_ID
  • HGNC:8877
FULL_SYN
  • PFKM wt AllelePTNCI
  • PFK1SYNCI
  • GSD7SYNCI
  • PFKASYNCI
  • PFKXSYNCI
  • Phosphofructokinase, Muscle wt AlleleSYNCI
  • PFK-1SYNCI
  • Phosphofructokinase, Polypeptide X GeneSYNCI
DEFINITION
  • Human PFKM wild-type allele is located in the vicinity of 12q13.11 and is approximately 41 kb in length. This allele, which encodes 6-phosphofructokinase, muscle type protein, plays a role in muscle cell metabolism of glucose. Mutation of the gene is associated with glycogen storage disease type 7.NCI
code
  • C104790
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