Pomgnt1 Protein O Linked Mannose N Acetylglucosaminyltransferase 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-Linked Mannose N-Acetylglucosaminyltransferase 1 | |
|---|---|
| Gene Symbol | POMGNT1 |
| Full Name | Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 |
| Chromosome | 1p13.3 |
| NCBI Gene ID | 55624 |
| OMIM | 607854 |
| Ensembl ID | ENSG00000145014 |
| UniProt ID | Q9P2F5 |
| 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-linked mannose N-acetylglucosaminyltransferase 1 (POMGNT1) catalyzes the addition of N-acetylglucosamine to O-mannose residues on proteins. This is the second step in O-mannosylglycosylation, essential for alpha-dystroglycan function[^1].
POMGNT1 performs functions:
POMGNT1 mutations cause WWS:
POMGNT1 can cause LGMD:
POMGNT1 is expressed in:
The study of Pomgnt1 Protein O Linked Mannose N Acetylglucosaminyltransferase 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.