Gaa 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.
Gaa 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.
GAA (Acid Alpha-Glucosidase) is a gene that encodes the enzyme acid alpha-glucosidase, also known as acid maltase. This enzyme is essential for glycogen breakdown in lysosomes.
| Property | Value |
|---|---|
| Gene Symbol | GAA |
| Full Name | Acid Alpha-Glucosidase |
| Chromosomal Location | 17q25.2-q25.3 |
| NCBI Gene ID | 2548 |
| Ensembl ID | ENSG00000171298 |
| UniProt ID | P10276 |
| OMIM | 232300 |
The GAA enzyme (acid alpha-glucosidase, also called acid maltase) is a lysosomal hydrolase that catalyzes the breakdown of glycogen to glucose. Specifically:
The enzyme digests glycogen within the lysosome, which is critical for maintaining cellular energy homeostasis, particularly in muscle and nerve cells.
Mutations in GAA cause Pompe disease (also known as Glycogen Storage Disease Type II, GSD II), a lysosomal storage disorder:
In both forms, neurological complications can include:
GAA is expressed in:
Gaa 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 Gaa 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.