FBP1 is a gluconeogenesis regulatory enzyme which 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.ACLP2 (acid phosphatase-like 2), also known as UNQ370 or PRO706, is a 96 amino acid secreted protein that functions to catalyze the H2O-dependent conversion of a phosphate monoester to an alcohol and a phosphate. Expressed as two alternatively spliced isoforms, ACPL2 is encoded by a gene that maps to chromosome 3, which houses over 1,100 genes, including a chemokine receptor (CKR) gene cluster and a variety of human cancer-related gene loci. Key tumor suppressing genes on chromosome 3 include those that encode the apoptosis mediator RASSF1, the cell migration regulator HYAL1 and the angiogenesis suppressor SEMA3B. Marfan Syndrome, porphyria, von Hippel-Lindau syndrome, osteogenesis imperfecta and Charcot-Marie-Tooth Disease are a few of the numerous genetic diseases associated with chromosome 3.
Subunit:
Homotetramer.
Tissue Specificity:
Belongs to the FBPase class 1 family.
DISEASE:
Defects in FBP1 are the cause of fructose-1,6-bisphosphatase deficiency (FBPD) [MIM:229700]. FBPD is inherited as an autosomal recessive disorder mainly in the liver and causes life-threatening episodes of hypoglycemia and metabolic acidosis (lactacidemia) in newborn infants or young children.
Similarity:
Belongs to the FBPase class 1 family.
SWISS:
P09467
Gene ID:
2203
Database links:
UniProtKB/Swiss-Prot: P09467.5
果糖1，6-二磷酸酯酶又称生长抑制蛋白17，是糖代谢过程中的关键酶，是一个典型的别构酶。
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