Fructose-2,6-biphosphatase 3, also known as 6-phosphofructo-2-kinase or PFK2 or PFKFB3, involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls the activity of the enzymes phosphofructokinase 1 (PFK-1) and fructose 1,6-bisphosphatase (FBPase-1) to regulate glycolysis and gluconeogenesis. Highly phosphorylated PFKFB3 protein was found in human tumor cells, vascular endothelial cells, and smooth muscle cells. Because of its proto-oncogenic character, the PFK-2/FBPase-2 of the PFKFB3 gene is assumed to play a critical role in tumorigenesis. PFKFB3 also plays a crucial role in the progression of cancerous cells by enabling their glycolytic pathways even under severe hypoxic conditions, which makes it a potential target for cancer therapy.
This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with an Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1.
PGA4 (Pepsinogen 4; group I); or Pepsinogen A; is a member of the peptidase A1 family. Pepsin is expressed as a pro-form zymogen; pepsinogen; whose primary structure has an additional 44 amino acids. Pepsin is stored as pepsinogen so it will only be released when needed; and does not digest the body's own proteins in the stomach's lining. Five types of zymogens of pepsins; gastric digestive proteinases; are known: pepsinogens A; B; and F; progastricsin; and prochymosin. There are two major groups of pepsinogen; namely pepsinogen A (PGA) and pepsinogen C (PGC) (or progastricsin); and each frequently has isozymogens. The PGA3; PGA4 and PGA5 genes encode identical human pepsinogen A enzymes.
This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer.
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