Pomt1 Protein O Mannosyltransferase 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.
| Protein O-Mannosyltransferase 1 | |
|---|---|
| Gene Symbol | POMT1 |
| Full Name | Protein O-Mannosyltransferase 1 |
| Chromosome | 9q34.13 |
| NCBI Gene ID | 10585 |
| OMIM | 607423 |
| Ensembl ID | ENSG00000130726 |
| UniProt ID | Q9Y6A6 |
| Associated Diseases | Muscular Dystrophy, Limb-Girdle; Walker-Warburg Syndrome |
This page provides comprehensive information about the subject's role in neurodegenerative diseases. The subject participates in various molecular pathways and cellular processes relevant to Alzheimer's disease, Parkinson's disease, and related conditions.
Protein O-mannosyltransferase 1 (POMT1) is an endoplasmic reticulum enzyme that catalyzes the transfer of mannose from dolichol-phosphate-mannose to serine/threonine residues of proteins. This O-mannosylation is critical for the function of alpha-dystroglycan[^1].
POMT1 performs functions:
POMT1 mutations cause Walker-Warburg syndrome:
POMT1 mutations can cause LGMD type 2K:
POMT1 is expressed in:
The study of Pomt1 Protein O Mannosyltransferase 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.