Gene
B3GALT6
beta-1,3-galactosyltransferase 6
- HGNC 17978↗(opens in a new tab)
- Ensembl gene ENSG00000176022↗(opens in a new tab)
- NCBI Gene 126792↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.33
- Coordinates
- Chromosome 1: 1,232,237–1,235,041 (GRCh38)
- Exons
- 1 exon across 2.8 kb
- Protein
- 329 amino acids
- Also known as
- beta3GalT6
- MANE Select transcript
- ENST00000379198.5NM_080605.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Ehlers-Danlos Syndrome
- 4 GenCC submitters rate 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
- 6 GenCC submitters rate it definitive or strong
How B3GALT6 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 2.8 kb of the gene's 2.8 kb; 990 of those bases code for the protein.
How a genome test reads B3GALT6
27
positions in B3GALT6 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 2.8 kb of B3GALT6, introns included, not only the 2.8 kb of exons.
Genes linked to the same conditions
- CHST14carbohydrate sulfotransferase 14Shares 2 conditions
- DSEdermatan sulfate epimeraseShares 2 conditions
- A4GALTalpha 1,4-galactosyltransferase (P1PK blood group)Shares 1 condition
- ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2Shares 1 condition
- AEBP1AE binding protein 1Shares 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
- ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseShares 1 condition
- ALG3ALG3 alpha-1,3- mannosyltransferaseShares 1 condition
Traits linked to B3GALT6
The Human Phenotype Ontology lists these as features of the rare conditions B3GALT6 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
- Double-Jointed
- Flattened vertebrae
- Hypoplastic iliac body
- Joint contracture
- Kyphoscoliosis
- Large iliac wing
- Large joint hypermobility
Show 32 more traits
- Osteopenia
- Recurrent fractures
- Small wings of the pelvic girdle
- Increased susceptibility to fractures
- Large joint dislocations
- Multiple joint contractures
- Multiple joint dislocation
- Spondyloepimetaphyseal dysplasia
- Abnormal formation of the hip
- Cervical spine instability
- Low muscle tone
- Low muscle tone, in neonatal onset
- Osteoporosis
- Ovoid vertebral bodies
- Anterior atlanto-occipital dislocation
- Atlantoaxial dislocation
- Congenital kyphoscoliosis
- Funnel chest
- Pigeon chest
- Scoliosis
- 11 pairs of ribs
- Abnormal development of end part of bone
- Abnormality of the rib cage
- Cupped ribs
- Flared iliac wing
- Flaring of rib cage
- Flexed joint that cannot be straightened
- Irregular vertebral endplates
- Radial head subluxation
- Short long bone
- Slender long bone
- Spontaneous fracture
Abnormality of limbs
- Bowed long bone in upper arm
- Bowing of the long bones
- Broad outermost finger bone
- Club foot on both sides
- Flared wide portion of long bone
- Hyperplasia of the femoral trochanters
- Increased mobility in finger joint
- Limited elbow movement
Show 27 more traits
- Proximal radio-ulnar synostosis
- Shortened long bone of hand
- Wrist flexion contracture
- Abnormality of femoral head development
- Accelerated wrist bone maturation
- Acetabular dysplasia
- Broad wide portion of long bone
- Slender long bones with narrow shaft
- Bunion
- Club feet
- Dropped arches
- Hip dislocation
- Inward turned thumb
- Joint contracture of the hand
- Long slender fingers
- Phalangeal dislocation
- Spoon shaped thumbs
- Fused forearm bones
- Fused wrist bones
- Bowing of outer large bone of the forearm
- Coxa valga
- Delayed proximal femoral epiphyseal ossification
- Dislocated radial head
- Front half of foot turns inward
- Knock knees
- Partial hip dislocation
- Short neck of thighbone
Abnormality of the integument
- Soft, doughy skin
- Soft skin
- Dermal translucency
- Hanging skin
- Hyperelastic skin
- Sunken or indented skin due to damage
- Thin skin
- Fragile skin
Show 2 more traits
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Bulge in wall of root of large artery that carries blood away from heart
- Bulging of wall of large artery located above heart
- Mitral valve prolapse
- Stroke
- Thoracic aortic aneurysm
- Aortic valve has two leaflets rather than three
- Hole in heart wall separating two lower heart chambers
Show 1 more trait
Abnormality of the eye
- Bulging eye
- Close sighted
- Corneal opacity
- Hardening of skin and connective tissue
- Blue outer white part of eyeball
- Cornea of eye less than 10mm in diameter
- Glaucoma
- Peripapillary atrophy
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.). B3GALT6 gene: beta-1,3-galactosyltransferase 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/b3galt6
Dante Labs. B3GALT6 gene: beta-1,3-galactosyltransferase 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/b3galt6
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