B3GALT6
Beta-1,3-Galactosyltransferase 6
Gene Information Card
| Symbol | B3GALT6 |
|---|---|
| Full Name | Beta-1,3-Galactosyltransferase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 126792 ncbi.nlm.nih.gov/gene/126792 |
| Ensembl ID | ENSG00000176022 |
| UniProt ID | Q96L58 |
| OMIM ID | 615291 |
| HGNC ID | 17978 |
| Aliases | beta3GalT6, GalT6, beta-1,3-galactosyltransferase 6 |
Description
B3GALT6 encodes beta-1,3-galactosyltransferase 6, a Golgi enzyme that catalyzes the transfer of galactose to the tetrasaccharide linker region of proteoglycans. This step is essential for the biosynthesis of glycosaminoglycan (GAG) chains. Mutations in B3GALT6 cause a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) and Ehlers-Danlos syndrome progeroid type (EDSP).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) | Loss-of-function mutations impair GAG linker synthesis, disrupting cartilage and bone development | OMIM #271640; multiple homozygous/compound heterozygous variants reported |
| Ehlers-Danlos syndrome progeroid type (EDSP) | Deficient galactosylation of proteoglycan linkers leads to connective tissue fragility and progeroid features | OMIM #130070; ClinVar pathogenic variants |
| Muscular dystrophy, congenital, with intellectual disability and cataracts (rare) | Impaired proteoglycan function in muscle and neural tissues | Case reports; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain cortex | 8.1 | Medium |
| Cartilage | 12.3 | Medium |
| Fibroblasts | 9.5 | Medium |
| Liver | 3.8 | Low |
| Skeletal muscle | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.4 | Moderate expression |
| HEK293 | 6.1 | Moderate expression |
| HUVEC | 5.9 | Moderate expression |
| K562 | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67Gln) | Missense | Rare | Loss of enzymatic activity; associated with SEMD-JL1 |
| c.463C>T (p.Arg155Trp) | Missense | Rare | Reduced galactosyltransferase activity; EDSP phenotype |
| c.680_681del (p.Glu227Glyfs*12) | Frameshift | Rare | Premature truncation; complete loss of function |
| c.808G>A (p.Gly270Arg) | Missense | Rare | Impaired protein stability; linkeropathy |
Mutation functional classification
Loss of Function (LOF)
Most B3GALT6 mutations are loss-of-function, reducing or abolishing galactosyltransferase activity, leading to incomplete GAG linker synthesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • integral component of membrane (GO:0016021) |
| • Golgi apparatus (GO:0005794) | • glycosaminoglycan metabolic process (GO:0030203) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015014) | • chondroitin sulfate proteoglycan biosynthetic process (GO:0015015) |
Pathways
• Proteoglycan biosynthesis (Reactome: R-HSA-1793185)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
Beta-1,3-galactosyltransferase 6 is a 329-amino acid type II transmembrane protein localized to the Golgi apparatus. It transfers galactose from UDP-galactose to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl) attached to serine residues of proteoglycan core proteins. This enzyme is critical for the elongation of both heparan sulfate and chondroitin sulfate chains. Structural studies indicate a conserved catalytic domain with a DXD motif essential for UDP-sugar binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GALT6 Knockout HEK293 Cell Line | EDJ-KQ8967 | Human | 126792 | Details Get a Quote |
| B3GALT6 Knockout A-549 Cell Line | EDJ-KQ35368 | Human | 126792 | Details Get a Quote |
| B3GALT6 Knockout HCT 116 Cell Line | EDJ-KQ35369 | Human | 126792 | Details Get a Quote |
| B3GALT6 Knockout HeLa Cell Line | EDJ-KQ35370 | Human | 126792 | Details Get a Quote |
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