PFKM Antibody – Rabbit Polyclonal

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.

PFKM: phosphofructokinase, muscle type. An ubiquitous metabolic enzyme involved in the synthesis and degradation of fructose 2,6-bisphosphate. Key control step of glycolysis. An allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or citrate. Activity: ATP D-fructose 6-phosphate = ADP D-fructose 1,6-bisphosphate. The holoenzyme consists of 4 subunits. The liver and muscle enzymes are homo-tetramers of four liver or muscle isoforms, respectively. The red blood cell enzyme consists hetero-tetramers of the muscle and liver isoforms. A subunit composition with a higher proportion of platelet type subunits is found in platelets, brain and fibroblasts. Defects in PFKM are the cause of glycogen storage disease VII (GSD-VII) also known as Tarui disease. Two alternatively spliced isoforms have been described.

Protein type: Carbohydrate Metabolism - glycolysis and gluconeogenesis; Carbohydrate Metabolism - galactose; EC 2.7.1.11; Carbohydrate Metabolism - pentose phosphate pathway; Kinase, other; Carbohydrate Metabolism - fructose and mannose

Chromosomal Location of Human Ortholog: 12q13.3

Cellular Component: 6-phosphofructokinase complex; apical plasma membrane; cytosol

Molecular Function: protein C-terminus binding; identical protein binding; protein binding; protein homodimerization activity; metal ion binding; kinase binding; ATP binding; 6-phosphofructokinase activity

Biological Process: muscle maintenance; glycolysis; carbohydrate metabolic process; carbohydrate phosphorylation; positive regulation of insulin secretion; glucose metabolic process; pathogenesis; glucose homeostasis; fructose 6-phosphate metabolic process; protein oligomerization

Disease: Glycogen Storage Disease Vii