| ncRNA Symbol: | PFKM | | Full Name: | phosphofructokinase, muscle | | Category: | mRNA | | Synonyms: | ATP-PFK|GSD7|PFK-1|PFK-A|PFK1|PFKA|PFKX|PPP1R122 | | Chromosome: | chr12 | | Strand: | + | | Coordinate: | | Start Site(bp): | 48105139 | End Site(bp): | 48146404 | | | Gene 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] | | External Links: | |
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