AtlasGene
LARGE1
LARGE xylosyl- and glucuronyltransferase 1
- HGNC 6511↗(opens in a new tab)
- Ensembl gene ENSG00000133424↗(opens in a new tab)
- NCBI Gene 9215↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q12.3
- Coordinates
- Chromosome 22: 33,272,509–33,920,476 (GRCh38)
- Exons
- 15 exons across 648 kb
- Protein
- 756 amino acids
- Also known as
- KIAA0609
- Previous symbols
- LARGE
- MANE Select transcript
- ENST00000397394.8NM_133642.5
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Congenital Muscular Dystrophies
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How LARGE1 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 4.8 kb of the gene's 648 kb; 2,271 of those bases code for the protein.
Sequencing LARGE1
2Low
How hard LARGE1 is to sequence with short reads, out of 100Each bar is the share of LARGE1's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.2.2%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.18%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
29
positions in LARGE1 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 648 kb of LARGE1, introns included, not only the 4.8 kb of exons.
Genes linked to the same conditions
- B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2Shares 1 condition
- B4GAT1beta-1,4-glucuronyltransferase 1Shares 1 condition
- CHKBcholine kinase betaShares 1 condition
- COL12A1collagen type XII alpha 1 chainShares 1 condition
- COL6A1collagen type VI alpha 1 chainShares 1 condition
- COL6A2collagen type VI alpha 2 chainShares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- CRPPACDP-L-ribitol pyrophosphorylase AShares 1 condition
- DAG1dystroglycan 1Shares 1 condition
- DOK7docking protein 7Shares 1 condition
- DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatoryShares 1 condition
- DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatoryShares 1 condition
Traits linked to LARGE1
The Human Phenotype Ontology lists these as features of the rare conditions LARGE1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal periventricular white matter morphology
- Abnormality of neuronal migration
- Absent reflexes
- Absent speech development
- Agyria
- Aplasia of the inferior half of the cerebellar vermis
- Babinski sign
- Delayed ability to sit
Show 47 more traits
- Delayed ability to walk
- Epilepsy
- Fewer and broader ridges in brain
- Global developmental delay
- Hand mirror movements
- IQ less than 20
- Overactive lower leg reflex
- Small brainstem
- Small cerebellum
- Type II lissencephaly
- Abnormal cerebellar vermis morphology
- Abnormal cortical gyration
- Abnormal gait
- Abnormal speech pattern
- Cognitive impairment
- Decreased reflex response
- EEG abnormality
- Fewer or absent grooves in brain
- Intellectual disability
- More grooves in brain
- Specific learning disability
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Abnormality of movement
- Absent septum pellucidum
- Agenesis of corpus callosum
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Dilated third ventricle
- Kinked brainstem
- Lateral ventricle dilatation
- Motor delay
- Poor gross motor coordination
- Abnormal pons morphology
- Abnormality of the nervous system
- Absent/small cerebellum
- Cerebellar vermis hypoplasia
- Diminished deep tendon reflex
- Holoprosencephaly
- Intellectual disability, severe
- Loss of ability to walk
- Meningocele
- Paralysis or weakness of one side of body
- Poor speech
- Underdevelopment of part of brain called corpus callosum
- Cerebellar dysplasia
- Excessive daytime sleepiness
- Hypoplasia of the pons
Abnormality of the eye
- Abnormally small eyeball
- Corneal opacity
- Decreased light- and dark-adapted electroretinogram amplitude
- Horizontal nystagmus
- Retinal dysplasia
- Breakdown of light-sensitive cells in back of eye
- Chorioretinal dysplasia
- Close sighted
Show 21 more traits
- Cross-eyed
- Glaucoma
- Optic atrophy
- Optic nerve issue
- Retinal detachment
- Visual impairment
- Absence of eyeballs
- Clouding of the lens of the eye
- Clouding of the lens of the eye at birth
- Pigmentary retinopathy
- Posterior synechiae of the anterior chamber
- Abnormality of the eye
- Cat eye
- Cornea of eye less than 10mm in diameter
- Blindness
- Enlarged cornea
- Enlarged eyeball
- Notched pupil
- Optic nerve hypoplasia
- Peters anomaly
- Retinal atrophy
Abnormality of the musculoskeletal system
- Generalized decreased muscle tone
- Increased skeletal muscle cells
- Low muscle tone
- Low muscle tone, in neonatal onset
- Proximal neurogenic muscle weakness
- Absent/small skeletal muscles
- Decreased muscle tone in infant
- EMG abnormality
Show 19 more traits
- Hypoglycosylation of alpha-dystroglycan
- Muscle degeneration
- Muscle tissue disease
- Muscle weakness
- Muscular dystrophy
- Reduced muscle fiber alpha dystroglycan
- Fatigable weakness of skeletal muscles
- Increased endomysial connective tissue
- Multiple joint contractures
- Spasticity and rigidity of muscles
- Abnormality of connective tissue
- Axial muscle weakness
- Limited neck movement
- Neuropathic spinal arthropathy
- Scoliosis
- Congenital contracture
- EMG: myopathic abnormalities
- Flexed joint that cannot be straightened
- Severely decreased muscle tone
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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). LARGE1 gene: LARGE xylosyl- and glucuronyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/large1
Dante Labs. LARGE1 gene: LARGE xylosyl- and glucuronyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/large1
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