GAA Gene

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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

Overview

Mermaid diagram (expand to render)

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

Overview

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)

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:

Mermaid diagram (expand to render)

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GAA Gene

GAA Gene

Overview

GAA Gene

Overview

Introduction

Gene Overview

Function

Disease Associations

Glycogen Storage Disease Type II (Pompe Disease)

Classic Infantile Form (Early-Onset)

Late-Onset Form

Pathogenesis

Neurological Involvement

Expression

Therapeutic Implications

Enzyme Replacement Therapy (ERT)

Gene Therapy

Substrate Reduction Therapy

See Also

Overview

Background

External Links

References

Related Pages

Pathway Diagram