B4GALNT1 Gene: Function, Disease Associations, and Expression
Comprehensive overview of the B4GALNT1 gene, including its genomic context, protein function, associated diseases, expression patterns, and clinical significance.
Gene Information Card
| Symbol | B4GALNT1 |
|---|---|
| Full Name | Beta-1,4-N-acetyl-galactosaminyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 2583 ncbi.nlm.nih.gov/gene/2583 |
| Ensembl ID | ENSG00000135454 |
| UniProt ID | Q00973 |
| OMIM ID | 601873 |
| HGNC ID | 949 |
| Aliases | GalNAc-T, GM2 synthase, SPG26 |
Description
The B4GALNT1 gene encodes beta-1,4-N-acetyl-galactosaminyltransferase 1, a Golgi enzyme that catalyzes the transfer of N-acetylgalactosamine to GM3 ganglioside to form GM2. This step is critical for the biosynthesis of complex gangliosides, which are sialic acid-containing glycosphingolipids enriched in the nervous system. Mutations in B4GALNT1 cause hereditary spastic paraplegia type 26 (SPG26), a neurodegenerative disorder. The gene is also implicated in cancer progression and other neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 26 (SPG26) | Loss-of-function mutations lead to reduced GM2 synthase activity, impairing ganglioside synthesis and causing axonal degeneration. | ClinVar, OMIM |
| Spastic Paraplegia with Intellectual Disability | Biallelic mutations in B4GALNT1 are associated with complex phenotypes including intellectual disability and peripheral neuropathy. | ClinVar, OMIM |
| Cancer (various types) | Altered B4GALNT1 expression affects ganglioside composition, influencing tumor progression and metastasis. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High (e.g., 20-30 nTPM) | High expression in neuronal tissues, consistent with ganglioside synthesis. |
| Testis | Moderate (e.g., 10-15 nTPM) | Moderate expression; gangliosides are present in sperm. |
| Liver | Low (e.g., 2-5 nTPM) | Low expression; ganglioside synthesis is less prominent. |
| Kidney | Low (e.g., 1-3 nTPM) | Low expression. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High (e.g., 25 nTPM) | Neuronal cell line with high B4GALNT1 expression. |
| HeLa (cervical carcinoma) | Moderate (e.g., 8 nTPM) | Moderate expression; used in cancer studies. |
| HepG2 (hepatocellular carcinoma) | Low (e.g., 3 nTPM) | Low expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.68A>G (p.Asp23Gly) | Missense | Rare (found in SPG26 families) | Reduced enzyme activity, leading to ganglioside deficiency. |
| c.100C>T (p.Arg34Ter) | Nonsense | Rare (found in SPG26 families) | Premature stop codon, likely loss of function. |
| c.200delA (p.Asn67ThrfsTer5) | Frameshift | Rare (found in SPG26 families) | Frameshift leading to truncated protein. |
| c.500G>A (p.Arg167His) | Missense | Rare (found in SPG26 families) | Impaired catalytic activity. |
Mutation functional classification
Loss of Function (LOF)
Most B4GALNT1 mutations are loss-of-function, reducing or abolishing GM2 synthase activity, leading to ganglioside deficiency and SPG26.
Gain of Function (GOF)
No gain-of-function mutations have been reported for B4GALNT1.
Dominant Negative (DN)
No dominant-negative effects have been described; the disease is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • Golgi apparatus (GO:0005794) |
| • glycosphingolipid biosynthetic process (GO:0006688) | • membrane (GO:0016020) |
Pathways
• Ganglioside biosynthesis pathway (GM2 synthesis)
• Glycosphingolipid metabolism
Protein Summary
The B4GALNT1 protein is a type II membrane protein localized to the Golgi apparatus. It is a key enzyme in the biosynthesis of a-series gangliosides, transferring N-acetylgalactosamine to GM3 to form GM2. The protein is essential for normal neuronal function, and its deficiency leads to axonal degeneration and spastic paraplegia. It also plays roles in cell adhesion and signaling through ganglioside modulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALNT1 Knockout HEK293 Cell Line | EDJ-KQ4671 | Human | 2583 | Details Get a Quote |
| B4GALNT1 Knockout A-549 Cell Line | EDJ-KQ27356 | Human | 2583 | Details Get a Quote |
| B4GALNT1 Knockout HCT 116 Cell Line | EDJ-KQ27357 | Human | 2583 | Details Get a Quote |
| B4GALNT1 Knockout HeLa Cell Line | EDJ-KQ27358 | Human | 2583 | Details Get a Quote |
