GAA Gene

GAA Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">GAA Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>GAA</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Acid Alpha-Glucosidase</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>17q25.2-q25.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2548</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000171298</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P10276</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>232300</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a>, <a href="/wiki/retinitis-pigmentosa" style="color:#ef9a9a">Retinitis Pigmentosa</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">37 edges</a></td>
</tr>
</table>

Overview

...

GAA Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">GAA Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>GAA</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Acid Alpha-Glucosidase</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>17q25.2-q25.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2548</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000171298</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P10276</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>232300</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a>, <a href="/wiki/retinitis-pigmentosa" style="color:#ef9a9a">Retinitis Pigmentosa</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">37 edges</a></td>
</tr>
</table>

Overview

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.

Introduction

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.

Gene Overview

Function

The GAA enzyme (acid alpha-glucosidase, also called acid maltase) is a lysosomal hydrolase that catalyzes the breakdown of glycogen to glucose. Specifically:

• Substrate: Glycogen (α-1,4-linked glucose polymer)
• Product: Glucose
• Optimal pH: ~4.0-5.0 (acidic, lysosomal environment)

The enzyme digests glycogen within the lysosome, which is critical for maintaining cellular energy homeostasis, particularly in muscle and nerve cells.

Disease Associations

Glycogen Storage Disease Type II (Pompe Disease)

Mutations in GAA cause Pompe disease (also known as Glycogen Storage Disease Type II, GSD II), a lysosomal storage disorder:

Classic Infantile Form (Early-Onset)

• Severe cardiomyopathy and muscle weakness
• Profound motor delays
• Failure to thrive
• Typically fatal by age 2 without treatment

Late-Onset Form

• Progressive skeletal muscle weakness
• Respiratory insufficiency
• Cardiac involvement is less severe
• Variable age of onset (childhood to adulthood)

Pathogenesis

• Enzyme deficiency leads to lysosomal glycogen accumulation
• Disrupts cellular architecture, particularly in muscle fibers
• Progressive muscle cell damage and necrosis

Neurological Involvement

In both forms, neurological complications can include:

• Motor neuron dysfunction
• Autonomic nervous system impairment
• Cognitive involvement in some cases (particularly late-onset)

Expression

GAA is expressed in:

• Skeletal muscle (highest levels)
• Cardiac muscle
• Liver
• Brain ([neurons](/entities/neurons) and glia)
• Fibroblasts

Therapeutic Implications

Enzyme Replacement Therapy (ERT)

• Myozyme (alglucosidase alfa) - approved ERT
• Lumizyme (algluosidase alfa) - approved for late-onset
• Avalglucosidase alfa (next-generation ERT)
• cipaglucosidase alfa (AT-GAA) - investigational

Gene Therapy

• AAV-vector based approaches in clinical trials
• Potential for long-term correction

Substrate Reduction Therapy

• Investigational approaches targeting glycogen synthesis

See Also

• [Genes/Gaa](/genes/gaa) — This page

Overview

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.

Background

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.

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

References

• van der Ploeg AT, et al. (2010). "A randomized study of alglucosidase alfa in late-onset Pompe's disease." New England Journal of Medicine. [DOI:10.1056/NEJMoa0909859](https://doi.org/10.1056/NEJMoa0909859)
• Taskinen M, et al. (2018). "Enzyme replacement therapy for late-onset Pompe disease: a systematic review." Journal of Neurology. [DOI:10.1007/s00415-018-8811-7](https://doi.org/10.1007/s00415-018-8811-7)

Related Pages

• Glycogen Storage Disease Type II
• [Lysosomal Storage Disorders](/diseases/lysosomal-storage-disorders)
• Acid Alpha-Glucosidase Protein
• Glycogen Metabolism Pathway

Pathway Diagram

The following diagram shows the key molecular relationships involving GAA Gene discovered through SciDEX knowledge graph analysis: