GFPT1
Description
The GFPT1 gene provides instructions for making an enzyme called glutamine:fructose-6-phosphate amidotransferase 1. This enzyme plays a crucial role in glucose metabolism by catalyzing the first committed step in the biosynthesis of glucosamine-6-phosphate, a precursor for the synthesis of glycosaminoglycans and other essential biomolecules. GFPT1 is found in various tissues, including the liver, kidney, and brain, where it contributes to diverse cellular functions like cell growth, differentiation, and immune responses.
Associated Diseases
- Hereditary fructose intolerance (HFI): Mutations in the GFPT1 gene lead to a deficiency in aldolase B, an enzyme crucial for fructose metabolism. This deficiency can cause severe liver damage, hypoglycemia, and other complications.
- Cancer: Increased GFPT1 expression has been observed in various cancers, suggesting a potential role in tumor growth and metastasis.
- Neurological disorders: GFPT1 is implicated in brain development and function. Mutations in the gene have been linked to certain neurological disorders.
- Immune system dysfunction: GFPT1 is involved in immune cell signaling and activation. Dysregulation of GFPT1 expression may contribute to immune deficiencies or autoimmune diseases.
Did you know?
The GFPT1 gene is highly conserved across various species, highlighting its essential role in fundamental cellular processes.
