GFPT1 glutamine--fructose-6-phosphate transaminase 1

Gene ID: 2673, updated on 3-Nov-2024
Gene type: protein coding
Also known as: GFA; GFAT; GFPT; MSLG; CMS12; GFAT1; CMSTA1; GFAT 1; GFAT1m; GFPT1L

Summary

This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital myasthenic syndrome 12 MedGen: C3552335OMIM: 610542GeneReviews: Not available	See labs
Congenital myasthenic syndrome 4C MedGen: C1837091OMIM: 608931GeneReviews: Congenital Myasthenic Syndromes Overview	See labs

Genomic context

Location:: 2p13.3

Sequence:: Chromosome: 2; NC_000002.12 (69319780..69387227, complement)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GFPT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GFPT1 homepage - Leiden Muscular Dystrophy pages
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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