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B3GALT6 - beta-1,3-galactosyltransferase 6
- Synonym(s) : beta-1,3-galactosyltransferase-6, beta3GalT6
- Previous symbols and names : UDP-Gal:betaGal beta 1,3-galactosyltransferase 6, UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6, UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6
- Type : gene with protein product
- Chromosomal location : 1p36.33
- OMIM: 615291
- HGNC: 17978
- UniProtKB: Q96L58
- Genatlas: B3GALT6
- GenCC: B3GALT6
- Ensembl: ENSG00000176022
- IUPHAR-DB: -
- Reactome: Q96L58
- LOVD: B3GALT6
Diseases list
- Disease-causing germline mutation(s) in Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
ORPHA:642099 
- Disease-causing germline mutation(s) (loss of function) in B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467
: AssessedAdditional information
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