B3GALT6 Antibody
Description
Antibody Overview
Target: B3GALT6 (UniProt ID: Q96L58), a Golgi-localized enzyme catalyzing galactose transfer in GAG linker region synthesis .
Host Species: Rabbit-derived polyclonal IgG antibody .
Immunogen: Synthetic peptide corresponding to a conserved region of human B3GALT6 .
Validated Use Cases
Key Findings Using This Antibody:
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Localized mutant B3GALT6 (R295C) mislocalization from Golgi to cytoplasm in HeLa cells, confirming loss-of-function effects .
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Demonstrated retained Golgi localization of frameshift mutant L170fs*268 despite structural instability .
Disease Associations
B3GALT6 dysfunction links to:
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Ehlers-Danlos Syndrome (EDS): Recessive mutations cause connective tissue defects .
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Spondyloepimetaphyseal Dysplasia (SEMD-JL1): Loss-of-function variants disrupt skeletal development .
Mechanistic Insights
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GAG Synthesis Role: Critical for heparan sulfate/chondroitin sulfate linker region galactosylation .
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Pathogenic Variants:
Validation Data
Product Specs
Target Background
- B3GALT6 encodes an enzyme involved in the biosynthesis of the GAG linker region. Mutations in this gene are associated with a severe skeletal dysplasia, known as spondyloepimetaphyseal dysplasia with joint laxity type 1. PMID: 23664117
- Genetic studies have revealed an association between B3GALT6 and Ehlers-Danlos-syndrome-like connective tissue disorder in three families. PMID: 23664118
