PFKM Polyclonal Antibody, 100ul Endonucleases & Exonucleases Alternative splicing of this gene

Alternative splicing of this gene results in two transcript variants encoding different isoforms

L-alanine is transported at physiological concentrations

This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol

characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID: 25282101)

subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus

PFKM Polyclonal Antibody, 100ul Endonucleases & Exonucleases Alternative splicing of this geneThree 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. PFKM encodes the muscle type isozyme. Mutations in PFKM have been associated with glycogen storage disease type VII, also known as Tarui disease.