PFKM
phosphofructokinase, muscle
Synonyms:
GSD7, PFK-1, PFK1, PFKA, PFKX
Species:
Human PFKM (5213), Mouse Pfkm (18642), Rat Pfkm (65152), domestic cat PFKM (101088852), Horse PFKM (100034116), Domestic Rabbit PFKM (100345647), chicken PFKM (374064), domestic guinea pig Pfkm (100733625), cow PFKM (506544), naked mole-rat Pfkm (101705614)
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
- domestic cat(101088852) phosphofructokinase, muscle
- Horse(100034116) phosphofructokinase, muscle
- Domestic Rabbit(100345647) phosphofructokinase, muscle
- chicken(374064) phosphofructokinase, muscle
- domestic guinea pig(100733625) phosphofructokinase, muscle
- cow(506544) phosphofructokinase, muscle
- naked mole-rat(101705614) phosphofructokinase, muscle
- dog(403849) phosphofructokinase, muscle
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