glutamine--fructose-6-phosphate transaminase 1

Summary
Gene Symbol
  • GFPT1
Aliases
  • GFA
  • GFAT
  • GFAT1
Organism
Homo sapiens (human)
NCBI Gene
2673
HGNC
4241
KEGG Gene ID
hsa:2673
PubChem
2673
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Aminotransferase
  • Biological rhythms
  • Congenital myasthenic syndrome
  • Disease variant
  • Glutamine amidotransferase
  • Phosphoprotein
  • Reference proteome
  • Repeat
Proteins
Displaying 1 entry
UniProt Protein Name
Q06210
  • D-fructose-6-phosphate amidotransferase 1
  • Glutamine:fructose-6-phosphate amidotransferase 1
  • Hexosephosphate aminotransferase 1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K00820
Name
glutamine---fructose-6-phosphate transaminase (isomerizing) [EC:2.6.1.16]
References
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110660 congenital myasthenic syndrome 12
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 1 - 10 of 60 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000218 High palate
HP:0000276 Long face
HP:0000303 Mandibular prognathia
HP:0000467 Neck muscle weakness
HP:0000486 Strabismus
HP:0000508 Ptosis
HP:0000597 Ophthalmoparesis
HP:0000689 Dental malocclusion
HP:0001252 Hypotonia
Displaying all 3 entries
Disease ID Disease Name
OMIM:608931
  • congenital myasthenic syndrome 4C
ORPHA:353327
  • obsolete congenital myasthenic syndromes with glycosylation defect
OMIM:610542
  • congenital myasthenic syndrome 12
Ortholog
Displaying entries 71 - 73 of 73 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
118905829 BALMU05051
122138274 CYPCA75181
122216151 PANLE02400

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025