PFKM
phosphofructokinase, muscle
Synonyms:
GSD7, PFK-1, PFK1, PFKA, PFKX
Species:
Human PFKM (5213), Mouse Pfkm (18642), Rat Pfkm (65152), naked mole-rat Pfkm (101705614), Domestic Rabbit PFKM (100345647), domestic guinea pig Pfkm (100733625), cow PFKM (506544), chicken PFKM (374064), domestic cat PFKM (101088852), Horse PFKM (100034116)
UniProtKB ID:
Gene ID:
- Human(5213) Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
- Mouse(18642) phosphofructokinase, muscle
- Rat(65152) phosphofructokinase, muscle
- naked mole-rat(101705614) phosphofructokinase, muscle
- Domestic Rabbit(100345647) phosphofructokinase, muscle
- domestic guinea pig(100733625) phosphofructokinase, muscle
- cow(506544) phosphofructokinase, muscle
- chicken(374064) phosphofructokinase, muscle
- domestic cat(101088852) phosphofructokinase, muscle
- Horse(100034116) phosphofructokinase, muscle
- dog(403849) phosphofructokinase, muscle
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