XB-GENEPAGE-493901
???displayGene.symbol???:
gfpt1
???displayGene.name???:
glutamine--fructose-6-phosphate transaminase 1
???displayGene.synonyms???
gfat
(
Nomenclature history )
???displayGene.geneFunction???
hexosamine biosynthetic pathway regulating enzyme
AI Protein Function
:
gfpt1 encodes a cytosolic glutamine‑fructose‑6‑phosphate transaminase that catalyzes the conversion of fructose‑6‑phosphate and glutamine to glucosamine‑6‑phosphate, the rate‑limiting step of the hexos...[+]
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Diseases:
Disease Ontology:
congenital myasthenic syndrome 12
MIM:
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFI
External Links:
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Symbol legend:
