Fructose-1,6-Bisphosphatase (FBP)

Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis.

By physical mapping with FISH and by genetic mapping of an associated GA repeat polymorphism, Rothschild et al. (1995) mapped the hepatic FBP gene to 9q22.3. Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM flanked by D9S289 and D9S287, near the gene for Fanconi anemia group C.