2024年12月25日 · GFPT1 (Glutamine--Fructose-6-Phosphate Transaminase 1) is a Protein Coding gene. Diseases associated with GFPT1 include Myasthenic Syndrome, Congenital, 12 and Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency.

GFPT1 is the key enzyme in the hexosamine biosynthesis pathway. Mutations in GFPT1 cause defective glycosylation in the proteins of the neuromuscular junction. Downregulation of the GFPT1 is associated with neuromuscular transmission defect.

2018年9月15日 · Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation.

2025年2月9日 · Clinical resource with information about GFPT1, Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 4C, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

GFPT1 is a prognostic marker in Kidney renal clear cell carcinoma, Rectum adenocarcinoma

2024年12月25日 · GFPT1 upregulation with glutamine, in turn, further increases the expression of COL2A1 and decreases the expression of MMP13. Conclusions: Our findings demonstrate that GFPT1 is downregulated in OA, and overexpressing …

2021年7月9日 · The GFPT1 gene encodes an isoform of glutamine:fructose-6-phosphate amidotransferase (GFAT), which catalyzes the transfer of an amino group from glutamine onto fructose-6-phosphate, yielding glucosamine 6-phosphate and glutamate. It is the first and rate-limiting enzyme of the hexosamine biosynthetic pathway.

Glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) is the rate-limiting enzyme within the hexosamine biosynthetic pathway (HBP), a metabolic pathway that produces the precursors for glycosylation.

2014年1月1日 · Two isoforms of GFPT have been discovered, namely, GFPT1 and GFPT2 (Oki et al. 1999). In this chapter, I describe GFPT1 or GFPT2 and specify which one is used in each of the papers cited. When the isoform used in a paper is difficult to specify, I …

2013年2月12日 · OBJECTIVE: To identify patients with GFPT1-related limb-girdle CMS and analyze phenotypic consequences of the identified mutations. BACKGROUND: GFPT1 is the rate limiting enzyme for N -acetylglucosamine synthesis, …