Gene
B4GAT1
beta-1,4-glucuronyltransferase 1
- HGNC 15685↗(opens in a new tab)
- Ensembl gene ENSG00000174684↗(opens in a new tab)
- NCBI Gene 11041↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q13.2
- Coordinates
- Chromosome 11: 66,345,374–66,347,629 (GRCh38)
- Exons
- 2 exons across 2.3 kb
- Protein
- 415 amino acids
- Also known as
- IGnT, iGAT, BETA3GNTI, B3GN-T1
- Previous symbols
- B3GNT6, B3GNT1
- MANE Select transcript
- ENST00000311181.5NM_006876.3
- 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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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 moderate
- 2 GenCC submitters rate it definitive or strong
How B4GAT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 kb of the gene's 2.3 kb; 1,248 of those bases code for the protein.
How a genome test reads B4GAT1
2
positions in B4GAT1 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 2.3 kb of B4GAT1, introns included, not only the 2 kb of exons.
Genes linked to the same conditions
- B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2Shares 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
- FKRPfukutin related proteinShares 1 condition
Traits linked to B4GAT1
The Human Phenotype Ontology lists these as features of the rare conditions B4GAT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Gray matter heterotopia
- Small cerebellum
- Ventriculomegaly
- Abnormal cerebellar vermis morphology
- Abnormal cortical gyration
- Abnormality of neuronal migration
- Absent reflexes
Show 19 more traits
- Decreased reflex response
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Global developmental delay
- Intellectual disability
- More grooves in brain
- Specific learning disability
- Too much cerebrospinal fluid in the brain
- Absent septum pellucidum
- Agenesis of corpus callosum
- Communicating hydrocephalus
- Type II lissencephaly
- Abnormal cerebral white matter morphology
- Agenesis of cerebellar vermis
- Cerebellar hemisphere hypoplasia
- Hydromyelia
- Small brainstem
- Anencephaly
- Cortical dysplasia
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.). B4GAT1 gene: beta-1,4-glucuronyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/b4gat1
Dante Labs. B4GAT1 gene: beta-1,4-glucuronyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/b4gat1
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