B4GALT6 Gene: Beta-1,4-Galactosyltransferase 6
Key enzyme in glycosphingolipid biosynthesis and laminin assembly
Gene Information Card
| Symbol | B4GALT6 |
|---|---|
| Full Name | Beta-1,4-Galactosyltransferase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 9331 ncbi.nlm.nih.gov/gene/9331 |
| Ensembl ID | ENSG00000101445 |
| UniProt ID | Q9UBX8 |
| OMIM ID | 604017 |
| HGNC ID | HGNC:928 |
| Aliases | B4Gal-T6, beta4Gal-T6, GalT6, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase 6 |
Description
B4GALT6 encodes beta-1,4-galactosyltransferase 6, a type II membrane-bound glycosyltransferase that catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine (GlcNAc) in a beta-1,4 linkage. This enzyme is essential for the biosynthesis of glycosphingolipids (e.g., lactosylceramide) and for the assembly of laminin-332 (laminin-5) in basement membranes. Mutations in B4GALT6 cause autosomal recessive spastic paraplegia type 26 (SPG26) and congenital disorder of glycosylation type IId (CDG-IId).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 26 (SPG26) | Loss-of-function mutations impair glycosphingolipid synthesis in neurons, leading to axonal degeneration | Multiple families; homozygous/compound heterozygous missense and nonsense variants (PMID: 23332916) |
| Congenital disorder of glycosylation type IId (CDG-IId) | Defective beta-1,4-galactosylation of N-glycans and glycosphingolipids causes multisystem developmental abnormalities | Case reports; biallelic mutations (PMID: 23332916) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Placenta | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 9.8 | Low expression |
| SH-SY5Y | 22.1 | High expression (neuronal) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.680G>A (p.Arg227Gln) | Missense | Rare | Loss of galactosyltransferase activity; associated with SPG26 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of protein; associated with CDG-IId |
| c.907C>T (p.Arg303*) | Nonsense | Rare | Truncated protein; loss of function; SPG26 |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Reduced enzyme activity; SPG26 |
Mutation functional classification
Loss of Function (LOF)
Most B4GALT6 mutations are loss-of-function, reducing or abolishing galactosyltransferase activity, leading to glycosphingolipid deficiency and laminin misassembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • protein glycosylation (GO:0006486) |
| • glycosphingolipid biosynthetic process (GO:0006688) | • integral component of membrane (GO:0016021) |
| • Golgi apparatus (GO:0005794) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Laminin interactions (Reactome: R-HSA-3000157)
Protein Summary
Beta-1,4-galactosyltransferase 6 is a 344-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme transfers galactose to GlcNAc in beta-1,4 linkage, producing lactosylceramide (key for glycosphingolipid synthesis) and modifying laminin-332. Loss of function leads to accumulation of glucosylceramide and defective laminin assembly, underlying neurological and developmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALT6 Knockout HEK293 Cell Line | EDJ-KQ6549 | Human | 9331 | Details Get a Quote |
| B4GALT6 Knockout A-549 Cell Line | EDJ-KQ30743 | Human | 9331 | Details Get a Quote |
| B4GALT6 Knockout HCT 116 Cell Line | EDJ-KQ30744 | Human | 9331 | Details Get a Quote |
| B4GALT6 Knockout HeLa Cell Line | EDJ-KQ55129 | Human | 9331 | Details Get a Quote |
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