Gene
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
- HGNC 2995(opens in a new tab)
- Ensembl gene ENSG00000172269(opens in a new tab)
- NCBI Gene 1798(opens in a new tab)
Summary
- Cytogenetic location
- 11q23.3
- Coordinates
- Chromosome 11: 119,096,510–119,101,853 (GRCh38)
- Exons
- 9 exons across 5.3 kb
- Protein
- 408 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- GPT, D11S366, DGPT, ALG7, CDG-Ij
- Previous symbols
- DPAGT2, DPAGT
- MANE Select transcript
- ENST00000354202.9NM_001382.4
- 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 DPAGT1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports 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.
- 3 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.
Congenital Disorders of Glycosylation
- DPAGT1-CDGAutosomal recessive
A congenital disorder of glycosylation caused by variants in DPAGT1, ranging from severe multisystem disease to a limb-girdle congenital myasthenic syndrome.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
The myasthenic form can respond to medicines used for congenital myasthenic syndromes.
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How DPAGT1 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 1.9 kb of the gene's 5.3 kb; 1,227 of those bases code for the protein.
How a genome test reads DPAGT1
36
positions in DPAGT1 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 5.3 kb of DPAGT1, introns included, not only the 1.9 kb of exons.
Traits linked to DPAGT1
The Human Phenotype Ontology lists these as features of the rare conditions DPAGT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Hypsarrhythmia
- Infantile spasms
- Abnormal peripheral nervous system synaptic transmission
- Absent reflexes
- Epilepsy
- Favorable response of weakness to acetylcholine esterase inhibitors
- Intellectual disability, severe
Show 31 more traits
- IQ between 34 and 49
- Motor delay
- Neurodevelopmental delay
- Abnormal gait
- Abnormality of the cerebellum
- Aggressive behavior
- Autism
- Brain imaging abnormality
- CNS hypomyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased reflex response
- Delayed speech and language development
- EEG with generalized slow activity
- Emotional poverty
- Epileptic encephalopathy
- Epileptic spasm
- Focal motor seizure
- Generalized brain degeneration
- Generalized myoclonic seizure
- Small cerebellum
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Waddling gait
- Absent speech development
- Akinesia
- Ataxia
- Head-banging
- Inability to walk
- Stereotypical body rocking
- Increased reflexes
- Intellectual disability
Abnormality of the musculoskeletal system
- Increased jitter at single fiber EMG
- Low muscle tone
- Proximal neurogenic muscle weakness
- Decreased muscle tone in infant
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Fatigable weakness
- Generalized decreased muscle tone
- Muscle tissue disease
Show 19 more traits
- Scoliosis
- Difficulty running
- Difficulty walking up stairs
- Double-Jointed
- Excessive inward curvature of lower spine
- Flexed joint that cannot be straightened
- Frequent falls
- Gowers sign
- Inability to make and keep healthy fat tissue
- Low muscle tone in trunk
- Muscle spasm
- Osteoporosis
- Permanent flexion of the finger or toe
- Poor head control
- Ragged-red muscle fibers
- Spasticity and rigidity of muscles
- Tired easily
- Type 1 muscle fiber predominance
- Weakness of outermost muscles
Abnormality of limbs
- Curvature of little finger
- Single transverse palmar crease
- Dropped arches
- Limb-girdle muscle weakness
- Curvature of digit
- Generalized weakness of limb muscles
- Inability to straighten knee
- Long slender fingers
Show 1 more trait
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.). DPAGT1 gene: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/dpagt1
Dante Labs. DPAGT1 gene: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dpagt1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks