GFPT1,2 transfer an amino group from L-Gln to F6P to form GlcN6P

Stable Identifier
R-HSA-449715
Type
Reaction
Species
Homo sapiens
Compartment
Synonyms
Formation of glucosamine 6-phosphate from fructose 6-phosphate and glutamine
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Glucosamine-fructose 6-phosphate aminotransferases 1 and 2 (GFPT1,2) are the first and rate-limiting enzymes in the hexosamine synthesis pathway, and thus formation of hexosamines like N-acetylglucosamine (GlcNAc). These enzymes probably play a role in limiting the availability of substrates for the N- and O- linked glycosylation of proteins (McKnight et al. 1992, Oki et al. 1999). GFPT1 and 2 are required for normal functioning of neuromuscular synaptic transmission. Defects in GFPT1 lead to altered muscle fibre morphology and impaired neuromuscular junction development (Senderek et al. 2011).

Literature References
PubMed ID Title Journal Year
21310273 Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

Abicht, A, Dusl, M, Nilipour, Y, Straub, V, Colomer, J, Laval, SH, Voit, T, Kariminejad, A, Müller, JS, Steinlein, OK, Strom, TM, Maxwell, S, Mallebrera, CJ, Palace, J, Guergueltcheva, V, Schoser, B, Krause, S, Bushby, K, Sieb, JP, Lochmüller, H, Beeson, D, Oldfors, A, Senderek, J, von der Hagen, M, Bozorgmehr, B, Muelas, N, Herrmann, R, Schlotter, B, Nascimento, A, Kirschner, J, Lindbergh, C, Vilchez, JJ, Najmabadi, H, Hübner, A, Diepolder, I, Urtizberea, A, Nafissi, S, Cossins, J, Rodolico, C

Am J Hum Genet 2011
1460020 Molecular cloning, cDNA sequence, and bacterial expression of human glutamine:fructose-6-phosphate amidotransferase

O'Hara, PJ, Traxinger, RR, Marshall, S, McKnight, GL, Sheppard, PO, Mathewes, SL, Mudri, SL

J Biol Chem 1992
10198162 cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse

Okada, M, Kuromitsu, J, Yamazaki, K, Oki, T, Tanaka, I

Genomics 1999
Participants
Participates
Catalyst Activity

glutamine-fructose-6-phosphate transaminase (isomerizing) activity of GFPT1,2 [cytosol]

Orthologous Events
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