Gene
GFPT1
glutamine--fructose-6-phosphate transaminase 1
- HGNC 4241(opens in a new tab)
- Ensembl gene ENSG00000198380(opens in a new tab)
- NCBI Gene 2673(opens in a new tab)
Summary
- Cytogenetic location
- 2p13.3
- Coordinates
- Chromosome 2: 69,319,780–69,387,227 (GRCh38)
- Exons
- 20 exons across 67.4 kb
- Protein
- 699 amino acids
- Also known as
- GFAT, GFA, GFAT1
- Previous symbols
- GFPT
- MANE Select transcript
- ENST00000357308.9NM_001244710.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read GFPT1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated report relevant to this gene
Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome (All Types)
Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.
How GFPT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.7 kb of the gene's 67.4 kb; 2,100 of those bases code for the protein.
How a genome test reads GFPT1
37
positions in GFPT1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 67.4 kb of GFPT1, introns included, not only the 8.7 kb of exons.
Traits linked to GFPT1
The Human Phenotype Ontology lists these as features of the rare conditions GFPT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Fatigable weakness
- Proximal neurogenic muscle weakness
- Ragged-red muscle fibers
- Generalized decreased muscle tone
- Increased jitter at single fiber EMG
- Muscle tissue disease
- Difficulty running
Show 20 more traits
- Difficulty walking up stairs
- Double-Jointed
- Excessive inward curvature of lower spine
- Flexed joint that cannot be straightened
- Frequent falls
- Gowers sign
- Muscle spasm
- Poor head control
- Scoliosis
- Tired easily
- Type 1 muscle fiber predominance
- Weakness of outermost muscles
- Arthrogryposis multiplex congenita
- Decreased lung function due to weak breathing muscles
- Decreased muscle mass
- Low muscle tone
- Muscle degeneration
- Neck muscle weakness
- Type 2 muscle fiber atrophy
- Wasting of muscles near the body
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). GFPT1 gene: glutamine--fructose-6-phosphate transaminase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/gfpt1
Dante Labs. GFPT1 gene: glutamine--fructose-6-phosphate transaminase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/gfpt1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks