FBP1

FBP1 or Fructose-1,6-bisphosphatase 1 is an enzyme that in humans is encoded by the FBP1 gene. It is a crucial enzyme involved in gluconeogenesis, the metabolic pathway that results in the generation of glucose from certain non-carbohydrate carbon substrates.

Function

FBP1 is a glycolytic enzyme that catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. This reaction is a key regulatory step in the gluconeogenic pathway. The enzyme is found in the cytosol and is not associated with any subcellular organelle or membrane.

Clinical significance

Mutations in the FBP1 gene are associated with fructose-1,6-bisphosphatase deficiency, a rare autosomal recessive disorder. This condition is characterized by episodic acute crises of lactic acidosis and ketosis, often triggered by fasting or infections. Long-term complications may include delayed physical development, intellectual disability, and failure to thrive.

Structure

The FBP1 enzyme is a homotetramer, meaning it is composed of four identical subunits. Each subunit has a molecular weight of approximately 37 kDa. The enzyme has a unique allosteric site for AMP, which inhibits the enzyme activity, and another for fructose 2,6-bisphosphate, which enhances the enzyme activity.

See also

• Fructose bisphosphatase
• Gluconeogenesis
• Fructose-1,6-bisphosphatase deficiency