| GLT8D1 | |
|---|---|
| Full Name | Glycosyltransferase 8 Domain Containing 1 |
| Chromosome | 3p21.1 |
| NCBI Gene ID | 84661 |
| Ensembl ID | ENSG00000139641 |
| OMIM ID | 618443 |
| UniProt ID | Q8NBF2 |
| Associated Diseases | ALS |
Glt8D1 — Glycosyltransferase 8 Domain Containing 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
GLT8D1 (Glycosyltransferase 8 Domain Containing 1) is a gene that encodes a glycosyltransferase enzyme involved in glycosphingolipid biosynthesis. Mutations in this gene have been identified as a cause of familial amyotrophic lateral sclerosis (ALS).
GLT8D1 encodes a member of the glycosyltransferase 8 family, which catalyzes the transfer of glycosyl groups during glycosphingolipid synthesis. Glycosphingolipids are essential components of cell membranes, particularly abundant in neural tissues where they play critical roles in cell signaling, cell-cell recognition, and membrane organization.
The enzyme is involved in the biosynthesis of gangliosides and other glycosphingolipids, which are crucial for:
Mutations in GLT8D1 have been linked to familial ALS, a progressive neurodegenerative disease affecting motor neurons. Key findings include:
Research has identified several pathogenic variants:
The proposed pathogenic mechanisms include:
GLT8D1 is widely expressed throughout the body, with highest expression in:
Within the nervous system, expression is notable in:
The study of Glt8D1 — Glycosyltransferase 8 Domain Containing 1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.