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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B4GALT6
beta-1,4-galactosyltransferase 6
Chromosome 18 · 18q12.1
NCBI Gene: 9331Ensembl: ENSG00000118276.12HGNC: HGNC:929UniProt: G3XA83
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lactosylceramide biosynthetic processgalactosyltransferase activityUDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activityprotein bindingosteoarthritisAbnormality of the immune systemcystic fibrosislung carcinoma
✦AI Summary

B4GALT6 (beta-1,4-galactosyltransferase 6) catalyzes the synthesis of lactosylceramide (LacCer) by transferring galactose from UDP-galactose to glucosylceramide 1. LacCer serves as the essential precursor for ganglioside biosynthesis, membrane-bound glycosphingolipids critical for CNS development, neuronal maturation, axonogenesis, and myelination. B4GALT6-derived LacCer regulates astrocyte activation in an autocrine manner and controls microglia/monocyte recruitment through CCL2 and GM-CSF production, contributing to neuroinflammation in multiple sclerosis models 2. Elevated B4GALT6 expression and LacCer levels are detected in MS lesions, making B4GALT6 inhibition a potential therapeutic strategy for neuroinflammatory disorders 2. Beyond CNS functions, B4GALT6 variants associate with thyroid function (FT4 levels) 3, glycemic traits and insulin resistance (HOMA-IR) in African populations 4, and age-related cataract risk through galactose metabolism pathways 5. B4GALT6 alterations in specific brain cell types (hippocampal microglia/neurons, cortical astrocytes) correlate with major depressive disorder pathology 6. These findings establish B4GALT6 as a multifunctional enzyme with significant roles in neuroinflammation, metabolic regulation, and psychiatric disorders, warranting further investigation as a therapeutic target.

Sources cited
1
B4GALT6 catalyzes lactosylceramide synthesis by transferring galactose from UDP-galactose to glucosylceramide
PMID: 36982367
2
B4GALT6-derived LacCer upregulates during CNS inflammation in MS models, regulates astrocyte activation and chemokine production controlling neuroinflammation
PMID: 25216636
3
Low-frequency B4GALT6 variant associates with free thyroxine (FT4) levels in thyroid function analysis
PMID: 25743335
4
B4GALT6 variant (rs6506934) associates with insulin resistance (HOMA-IR) in continental African populations
PMID: 40025146
5
B4GALT6 genetic variants contribute to age-related cataract risk through galactose metabolism pathways with dietary interactions
PMID: 34954695
6
B4GALT6 expression is elevated in specific hippocampal and cortical cell types in major depressive disorder mouse models
PMID: 41112602
Disease Associationsⓘ20
osteoarthritisOpen Targets
0.10Suggestive
Abnormality of the immune systemOpen Targets
0.05Suggestive
cystic fibrosisOpen Targets
0.02Suggestive
lung carcinomaOpen Targets
0.02Suggestive
glioblastoma multiformeOpen Targets
0.02Suggestive
Patent ductus arteriosusOpen Targets
0.02Suggestive
astrocytomaOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
Friedreich ataxiaOpen Targets
0.01Suggestive
oligodendrogliomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Pituitary prolactin cell adenomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Adams-Oliver syndromeOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
kidney oncocytomaOpen Targets
0.01Suggestive
liver and intrahepatic bile duct neoplasmOpen Targets
0.01Suggestive
Neoplasm of the liverOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
prostate neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UGCGProtein interaction99%A4GALTProtein interaction95%GBA2Protein interaction94%B3GNT5Protein interaction91%GBA1Protein interaction85%GLAProtein interaction85%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
76%
Heart
27%
Ovary
13%
Liver
9%
Lung
6%
Gene Interaction Network
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B4GALT6UGCGA4GALTGBA2B3GNT5GBA1GLA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59GB5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.53Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.31 [0.19–0.53]
RankingsWhere B4GALT6 stands among ~20K protein-coding genes
  • #14,366of 20,598
    Most Researched19
  • #3,299of 17,882
    Most Constrained (LOEUF)0.53 · top quartile
Genes detectedB4GALT6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of astrocyte activation by glycolipids drives chronic CNS inflammation.
PMID: 25216636
Nat Med · 2014
1.00
2
Whole-genome sequence-based analysis of thyroid function.
PMID: 25743335
Nat Commun · 2015
0.90
3
Genome-wide association study identifying novel risk variants associated with glycaemic traits in the continental African AWI-Gen cohort.
PMID: 40025146
Diabetologia · 2025
0.80
4
Brain region and cell specificity of
PMID: 41112602
World J Psychiatry · 2025
0.70
5
Delving into human α1,4-galactosyltransferase acceptor specificity: The role of enzyme dimerization.
PMID: 39111055
Biochem Biophys Res Commun · 2024
0.60