Gnptab Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Gnptab Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
GNPTAB (N-acetylglucosamine-1-phosphate transferase alpha and beta subunits) encodes a key enzyme in the targeting of lysosomal hydrolases. Mutations in GNPTAB cause mucolipidosis II and III, and the gene has been implicated in Parkinson's disease through its role in lysosomal function.
| Property | Value |
|---|---|
| Gene Symbol | GNPTAB |
| Full Name | N-acetylglucosamine-1-phosphate transferase subunits alpha/beta |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 57157 |
| OMIM | 607840 |
| Ensembl ID | ENSG00000164930 |
| UniProt | Q3YQZ3 |
| Associated Diseases | Mucolipidosis II/III, Parkinson's Disease |
GNPTAB is essential for proper lysosomal enzyme trafficking:
GNPTAB is expressed in:
Title: GNPTAB mutations cause mucolipidosis II and III
Authors: Tiede S, et al.
Journal: Nature Genetics
Year: 2005
[DOI:10.1038/ng1621](https://doi.org/10.1038/ng1621)
Title: Lysosomal dysfunction in Parkinson's disease
Authors: Dehay B, et al.
Journal: Nature Reviews Neurology
Year: 2012
[DOI:10.1038/nrneurol.2012.65](https://doi.org/10.1038/nrneurol.2012.65)
Gnptab Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Gnptab Gene 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.