PFKM

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]

Description

phosphofructokinase, muscle

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

12:q13.11 (48105139 - 48146404)

Ensembl ID

ENSG00000152556  (ver. 84.38)

Orthologs

Mouse Pfkm: ENSMUSG00000033065

UniProt

P08237

neXtProt

NX_P08237

Human splice variants
Mouse splice variants