Gene
ALG14
ALG14 UDP-N-acetylglucosaminyltransferase subunit
- HGNC 28287↗(opens in a new tab)
- Ensembl gene ENSG00000172339↗(opens in a new tab)
- NCBI Gene 199857↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p21.3
- Coordinates
- Chromosome 1: 94,974,405–95,072,951 (GRCh38)
- Exons
- 4 exons across 98.5 kb
- Protein
- 216 amino acids
- Also known as
- MGC19780
- MANE Select transcript
- ENST00000370205.6NM_144988.4
- 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.
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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.
- 2 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.
Broader groupings
Congenital Disorders of Glycosylation
- 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.
- 2 GenCC submitters rate it definitive or strong
How ALG14 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 9.4 kb of the gene's 98.5 kb; 651 of those bases code for the protein.
How a genome test reads ALG14
2
positions in ALG14 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 98.5 kb of ALG14, introns included, not only the 9.4 kb of exons.
Genes linked to the same conditions
- ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseShares 2 conditions
- DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1Shares 2 conditions
- GMPPBGDP-mannose pyrophosphorylase BShares 2 conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
- AGRNagrinShares 1 condition
- ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseShares 1 condition
- ALG11ALG11 alpha-1,2-mannosyltransferaseShares 1 condition
- ALG12ALG12 alpha-1,6-mannosyltransferaseShares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG3ALG3 alpha-1,3- mannosyltransferaseShares 1 condition
- ALG6ALG6 alpha-1,3-glucosyltransferaseShares 1 condition
- ALG8ALG8 alpha-1,3-glucosyltransferaseShares 1 condition
Traits linked to ALG14
The Human Phenotype Ontology lists these as features of the rare conditions ALG14 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
- Increased jitter at single fiber EMG
- Severely decreased muscle tone
- Multiple joint contractures
- Congenital contracture
- Generalized decreased muscle tone
- Muscle tissue disease
Show 18 more traits
- Proximal neurogenic muscle weakness
- Type 1 muscle fiber atrophy
- Type 2 muscle fiber atrophy
- Type 2 muscle fiber predominance
- Difficulty running
- 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
- Ragged-red muscle fibers
- Scoliosis
- Tired easily
- Type 1 muscle fiber predominance
- Weakness of outermost muscles
Abnormality of the nervous system
- Absent speech development
- Aggressive behavior
- Anxiety
- Autism
- Degeneration of cerebrum
- Delayed CNS myelination
- Epilepsy
- Global developmental delay
Show 12 more traits
- Infantile spasms
- Intellectual disability, severe
- More active than typical
- Self-injurious behavior
- Abnormal peripheral nervous system synaptic transmission
- Absent reflexes
- EEG with burst suppression
- Favorable response of weakness to acetylcholine esterase inhibitors
- Hypsarrhythmia
- Motor delay
- Abnormal gait
- Waddling gait
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.). ALG14 gene: ALG14 UDP-N-acetylglucosaminyltransferase subunit. Retrieved 17 October 2026, from https://dantelabs.com/genes/alg14
Dante Labs. ALG14 gene: ALG14 UDP-N-acetylglucosaminyltransferase subunit [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/alg14
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