UGT8: UDP-Glycosyltransferase 8 (Galactosylceramide Synthase)
Key enzyme in myelin galactolipid biosynthesis and potential biomarker in neurological and metabolic disorders
Gene Information Card
| Symbol | UGT8 |
|---|---|
| Full Name | UDP Glycosyltransferase 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 7368 ncbi.nlm.nih.gov/gene/7368 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q16880 |
| OMIM ID | 601291 |
| HGNC ID | 12524 |
| Aliases | CGT, UGT-8, UGT8A, GalT, UDP-galactose ceramide galactosyltransferase |
Description
UGT8 encodes UDP-glycosyltransferase 8, also known as galactosylceramide synthase (CGT). This enzyme catalyzes the transfer of galactose from UDP-galactose to ceramide, producing galactosylceramide (GalCer), a major glycosphingolipid in myelin. UGT8 is essential for normal myelination in the central and peripheral nervous systems. Its expression is predominantly in oligodendrocytes and Schwann cells. Mutations or dysregulation of UGT8 are linked to leukodystrophies, multiple sclerosis, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leukodystrophy, hypomyelinating, 2 (HLD2) | Loss-of-function mutations in UGT8 impair galactosylceramide synthesis, disrupting myelin formation and maintenance. | OMIM #608804; ClinVar |
| Multiple sclerosis | Reduced UGT8 expression in oligodendrocytes correlates with demyelination and impaired remyelination. | PubMed studies; NCBI Gene |
| Glioma | UGT8 overexpression in glioblastoma is associated with altered sphingolipid metabolism and tumor progression. | COSMIC; PubMed |
| Charcot-Marie-Tooth disease (CMT) | UGT8 variants may contribute to peripheral neuropathy through defective myelin galactolipid synthesis. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Spinal cord | 38.7 | High |
| Peripheral nerve | 30.1 | High |
| Testis | 2.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oligodendrocytes (primary) | 120.0 | High expression; key for myelin synthesis |
| Schwann cells (primary) | 85.0 | High expression; peripheral myelination |
| U87MG (glioblastoma) | 15.4 | Moderate; upregulated in glioma |
| HEK293 | 0.8 | Very low; not endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.682C>T (p.Arg228Trp) | Missense | <0.01% | Impaired enzyme activity; associated with HLD2 |
| c.1045G>A (p.Gly349Ser) | Missense | <0.01% | Reduced galactosylceramide synthesis |
| c.1234_1235insA | Frameshift | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations (e.g., p.Arg228Trp, p.Gly349Ser) reduce or abolish galactosylceramide synthase activity, leading to hypomyelination.
Gain of Function (GOF)
Not reported in UGT8.
Dominant Negative (DN)
Not reported in UGT8.
View complete mutation data：
Gene Ontology (GO)
| • ceramide galactosyltransferase activity (GO:0003849) | • glycosphingolipid biosynthetic process (GO:0006688) |
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
| • myelination (GO:0042552) |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Myelin sheath formation (Reactome: R-HSA-1483248)
Protein Summary
UGT8 is a 541-amino acid transmembrane protein localized to the Golgi apparatus. It catalyzes the final step in galactosylceramide (GalCer) synthesis, transferring galactose from UDP-galactose to ceramide. GalCer is a critical component of myelin sheaths, providing stability and insulation for nerve conduction. The enzyme is highly expressed in oligodendrocytes and Schwann cells. Structural studies show a conserved UDP-glycosyltransferase fold with a catalytic domain facing the Golgi lumen. Post-translational modifications include N-glycosylation at Asn-78, which is essential for proper folding and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UGT8 Knockout HEK293 Cell Line | EDJ-KQ5999 | Human | 7368 | Details Get a Quote |
| UGT8 Knockout HCT 116 Cell Line | EDJ-KQ29594 | Human | 7368 | Details Get a Quote |
| UGT8 Knockout HeLa Cell Line | EDJ-KQ29595 | Human | 7368 | Details Get a Quote |
| UGT8 Knockout A-549 Cell Line | EDJ-KQ63219 | Human | 7368 | Details Get a Quote |
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