Gene
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
- HGNC 19139(opens in a new tab)
- Ensembl gene ENSG00000085998(opens in a new tab)
- NCBI Gene 55624(opens in a new tab)
Summary
- Cytogenetic location
- 1p34.1
- Coordinates
- Chromosome 1: 46,188,683–46,198,434 (GRCh38)
- Exons
- 22 exons across 9.8 kb
- Protein
- 660 amino acids
- Also known as
- FLJ20277, MGAT1.2, LGMD2O
- Previous symbols
- MEB
- MANE Select transcript
- ENST00000371984.8NM_017739.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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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).
- 5 GenCC submitters rate it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 1 GenCC submitter rates it definitive or strong
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.
- ClinGen rates the link definitive
- 7 GenCC submitters rate it definitive or strong
Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 1 GenCC submitter rates it definitive or strong
How POMGNT1 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 2.7 kb of the gene's 9.8 kb; 1,983 of those bases code for the protein.
How a genome test reads POMGNT1
234
positions in POMGNT1 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 9.8 kb of POMGNT1, introns included, not only the 2.7 kb of exons.
Traits linked to POMGNT1
The Human Phenotype Ontology lists these as features of the rare conditions POMGNT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Close sighted
- Decreased clarity of vision
- Difficulties with night vision
- Glaucoma
- Limited peripheral vision
- Retinal dysplasia
- Retinal thinning
- Severe near sightedness
Show 47 more traits
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Breakdown of light-sensitive cells in back of eye
- Chorioretinal dysplasia
- Cross-eyed
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Optic nerve issue
- Progressive night blindness
- Retina degeneration
- Retinal detachment
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal full-field electroretinogram
- Abnormally small eyeball
- Absence of eyeballs
- Bulging cornea
- Clouding of the lens of the eye
- Corneal opacity
- Cystoid macular edema
- Eye muscle paralysis
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Peripapillary atrophy
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Tigroid fundus
- Abnormal color vision
- Abnormality of the iris
- Cat eye
- Cornea of eye less than 10mm in diameter
- Enlarged cornea
- Notched pupil
- Optic nerve hypoplasia
- Photopsia
- Decreased light- and dark-adapted electroretinogram amplitude
- Enlarged eyeball
- Enlarged flash visual evoked potentials
- Hyperautofluorescent macular lesion
- Opacification of the corneal stroma
- Uncontrolled eye movements
- Undetectable electroretinogram
Abnormality of the nervous system
- Global developmental delay
- Too much cerebrospinal fluid in the brain
- Abnormal cerebellar vermis morphology
- Abnormal cortical gyration
- Abnormal gait
- Abnormal speech pattern
- Abnormality of neuronal migration
- Absent reflexes
Show 42 more traits
- Cognitive impairment
- Decreased reflex response
- EEG abnormality
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Intellectual disability
- More grooves in brain
- Small cerebellum
- Specific learning disability
- Ventriculomegaly
- Abnormal pyramidal sign
- Abnormal shape of brain
- Abnormal shape of brainstem
- Abnormality of movement
- Abnormality of the cerebellum
- Absent septum pellucidum
- Agenesis of corpus callosum
- Diffuse white matter abnormalities
- Dilated fourth ventricle
- Epilepsy
- Gray matter heterotopia
- Small brainstem
- Type II lissencephaly
- Absent/small cerebellum
- Cerebellar cyst
- Clonus
- Decreased thalamic volume
- Fusion of the cerebellar hemispheres
- Holoprosencephaly
- Hypoplasia of the pons
- Increased reflexes
- Intellectual disability, mild
- Meningocele
- Motor delay
- Olivopontocerebellar hypoplasia
- Paralysis or weakness of one side of body
- Aplasia/Hypoplasia of the corpus callosum
- Cerebellar dysplasia
- Intellectual disability, severe
- IQ less than 20
- Jerking
- Severe global developmental delay
Abnormality of the musculoskeletal system
- Generalized decreased muscle tone
- Gowers sign
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Muscular dystrophy
- Prominent swayback
- Proximal neurogenic muscle weakness
- Absent/small skeletal muscles
Show 14 more traits
- EMG abnormality
- Hypoglycosylation of alpha-dystroglycan
- Low muscle tone
- Muscle degeneration
- Muscle tissue disease
- Muscle weakness
- Reduced muscle fiber alpha dystroglycan
- Excessive inward curvature of lower spine
- Increased skeletal muscle cells
- Spasticity and rigidity of muscles
- Difficulty walking up stairs
- Generalized muscle weakness
- Involuntary muscle stiffness, contraction, or spasm
- 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 2026-10-16: 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.). POMGNT1 gene: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-). Retrieved 16 October 2026, from https://dantelabs.com/genes/pomgnt1
Dante Labs. POMGNT1 gene: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pomgnt1
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