" /> PFKM wt Allele - CISMeF





Preferred Label : PFKM wt Allele;

NCIt synonyms : Phosphofructokinase, Polypeptide X Gene; PFK1; PFK-1; PFKX; GSD7; Phosphofructokinase, Muscle wt Allele; PFKA;

NCIt 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.;

GenBank Accession Number : M26066;

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31/07/2025


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