Disease-gene associations mined from literature

Literature associating GFPT1 and congenital myasthenic syndrome 4C

GFPT1 [ENSP00000349860]

Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Regulates the circadian expression of clock genes ARNTL/BMAL1 and CRY1.

Synonyms:  GFPT1,  GFPT1p,  hGFPT1,  Q06210,  GFA ...

Linkouts:  STRING  Pharos  UniProt