ALS7 - Amyotrophic Lateral Sclerosis 7

ALS7 - Amyotrophic Lateral Sclerosis 7

Overview

ALS7 - Amyotrophic Lateral Sclerosis 7

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">ALS7 - Amyotrophic Lateral Sclerosis 7</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>ALS7</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>ALS7 - Amyotrophic Lateral Sclerosis 7</td>
</tr>
<tr>
<td class="label">Type</td>
<td>Gene</td>
</tr>
<tr>
<td class="label">NCBI</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/?term=ALS7" target="_blank">Search NCBI</a></td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/amyotrophic-lateral-sclerosis" style="color:#ef9a9a">Amyotrophic Lateral Sclerosis</a>, <a href="/wiki/glaucoma" style="color:#ef9a9a">Glaucoma</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">20 edges</a></td>
</tr>
</table>

ALS7 (Amyotrophic Lateral Sclerosis 7) is a genetic locus associated with familial amyotrophic lateral sclerosis (FALS). It was identified through genetic linkage studies in families with autosomal dominant inheritance patterns of ALS. The ALS7 locus represents one of several genetic factors contributing to ALS susceptibility and pathogenesis, highlighting the complex genetic architecture of this neurodegenerative disorder. [@chen2010]

Gene Information

• Gene Symbol: ALS7
• Chromosomal Location: 20p13
• Inheritance Pattern: Autosomal dominant
• Gene Type: Protein-coding (exact gene product under investigation)
• OMIM ID: 607350

Normal Function

Physiological Role

While the precise normal function of the ALS7 gene product remains under investigation, research suggests involvement in: [@sapp2003]

Expression Patterns

ALS7 expression has been detected in: [@conforti2008]

• Central nervous system: Motor [cortex](/brain-regions/cortex), spinal cord (motor neurons), [hippocampus](/brain-regions/hippocampus)
• Peripheral tissues: Various organs with highest expression in nervous system tissue
• Cellular localization: Cytoplasmic and nuclear compartments

Evolutionary Conservation

The ALS7 locus shows conservation across mammalian species, suggesting important functional roles. Orthologous genes are found in mice and other model organisms, enabling research into disease mechanisms. [@lattante2015]

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

ALS7 is associated with familial ALS through multiple lines of evidence: [@cirulli2015]

• Adult onset (typically 40-60 years)
• Limb-onset weakness (upper or lower motor neuron signs)
• Progressive paralysis
• Median survival of 2-5 years from symptom onset

ALS Phenotypes

ALS7 has been associated with:

• Classic Charcot ALS (most common presentation)
• Bulbar-onset ALS
• Upper motor neuron-predominant ALS
• ALS with frontotemporal dementia (ALS-FTD)

Relationship to Other ALS Genes

ALS7 represents one of over 30 genes implicated in ALS:

• ALS1 (SOD1) - Most common familial ALS gene
• ALS4 (SETX) - Associated with juvenile-onset ALS
• ALS6 (FUS) - RNA processing gene
• ALS8 (VAPB) - ER stress and protein trafficking
• [C9orf72](/entities/c9orf72) - Most common genetic cause of ALS/FTD

• RNA metabolism
• Protein homeostasis
• Mitochondrial function
• Cytoskeletal dynamics

Pathogenic Mechanisms

Current Hypotheses

Research on ALS7 pathogenic mechanisms is ongoing, with several hypotheses under investigation:

Cellular Pathways Affected

• Protein quality control systems
• Cellular stress response pathways
• Mitochondrial function and energy metabolism
• Cytoskeletal integrity
• RNA metabolism and splicing

Research Findings

Key research on ALS7:

Diagnosis and Genetic Testing

Genetic Testing

ALS7 testing is available through clinical genetic testing laboratories:

• Family history of ALS
• Early-onset ALS
• Autosomal dominant inheritance pattern

• Targeted sequencing of ALS7 coding regions
• Whole exome sequencing

• Pathogenic variants confirm genetic etiology
• Variants of uncertain significance require functional studies
• Negative results do not exclude ALS7 involvement

Genetic Counseling

• Autosomal dominant inheritance with incomplete penetrance
• 50% risk to affected individual's offspring
• Variable age of onset
• Consider testing for at-risk family members

Therapeutic Implications

Research Directions

Clinical Trials

Currently, ALS7-specific clinical trials are limited, but general ALS trials include patients with various genetic subtypes. Ongoing research aims to develop gene-specific therapies.

See Also

• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
• [Familial ALS](/diseases/familial-als)
• [ALS Genetics](/mechanisms/als-genetics)
• [Motor Neuron Disease](/diseases/motor-neuron-disease)
• [Frontotemporal Dementia](/diseases/frontotemporal-dementia)
• [ALS-FTD Spectrum](/diseases/als-ftd-spectrum)

External Links

• [ALS7 Gene - NCBI Gene](https://www.ncbi.nlm.nih.gov/gene/57697)
• [OMIM - ALS7](https://www.omim.org/entry/607350)
• [ALS Association - Genetic Testing](https://www.als.org/)
• [Project ALS](https://www.projectals.org/)

Brain Atlas Resources

• [Allen Human Brain Atlas](https://human.brain-map.org/) — gene expression data
• [BrainSpan Atlas](https://brainspan.org/) — developmental transcriptome
• [Allen Mouse Brain Atlas](https://mouse.brain-map.org/) — mouse brain gene expression

References

Pathway Diagram

The following diagram shows the key molecular relationships involving ALS7 - Amyotrophic Lateral Sclerosis 7 discovered through SciDEX knowledge graph analysis: