TIMM50 Gene - Mitochondrial Import Protein

TIMM50 Gene - Mitochondrial Import Protein

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TIMM50 — Mitochondrial Import Inner Membrane Translocase Subunit Tim50</th>
</tr>
<tr> [@role]
<td class="label">Symbol</td> [@mitochondrialc]
<td><strong>TIMM50</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Translocase of Inner Mitochondrial Membrane 50</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/54852" target="_blank">54852</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166395" target="_blank">ENSG00000166395</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/605749" target="_blank">605749</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9C0B1" target="_blank">Q9C0B1</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Mitochondrial Disorders](/diseases/mitochondrial-disorders), [Parkinson's Disease](/diseases/parkinsons-disease), [Encephalopathy](/diseases/encephalopathy)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Heart, Brain, Muscle, Liver, Kidney</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/heart-failure" style="color:#ef9a9a">Heart Failure</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></t

TIMM50 Gene - Mitochondrial Import Protein

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TIMM50 — Mitochondrial Import Inner Membrane Translocase Subunit Tim50</th>
</tr>
<tr> [@role]
<td class="label">Symbol</td> [@mitochondrialc]
<td><strong>TIMM50</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Translocase of Inner Mitochondrial Membrane 50</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>9q34.3</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/54852" target="_blank">54852</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166395" target="_blank">ENSG00000166395</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/605749" target="_blank">605749</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9C0B1" target="_blank">Q9C0B1</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Mitochondrial Disorders](/diseases/mitochondrial-disorders), [Parkinson's Disease](/diseases/parkinsons-disease), [Encephalopathy](/diseases/encephalopathy)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Heart, Brain, Muscle, Liver, Kidney</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/heart-failure" style="color:#ef9a9a">Heart Failure</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">44 edges</a></td>
</tr>
</table>

TIMM50 — Mitochondrial Import Inner Membrane Translocase Subunit

Introduction

Timm50 Gene Mitochondrial Import Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

TIMM50 is an essential component of the mitochondrial protein import machinery. Located in the inner mitochondrial membrane, it plays a critical role in transporting proteins from the intermembrane space into the mitochondrial matrix, which is essential for maintaining mitochondrial function and cellular viability.

Function

TIMM50 serves as a central hub in the mitochondrial protein import system:

The TIM23 complex, with TIMM50 as a key component, imports over 1000 different proteins including metabolic enzymes, transport proteins, and components of the respiratory chain.

Disease Associations

Mitochondrial Disorders

TIMM50 mutations have been associated with:

• Severe mitochondrial encephalomyopathy
• Lactic acidosis
• Developmental regression
• Hypertrophic cardiomyopathy

Parkinson's Disease

Given the critical role of mitochondria in dopaminergic neuron survival:

• Impaired protein import may contribute to mitochondrial dysfunction
• Links to PINK1/Parkin pathway
• May affect mitophagy efficiency

Alzheimer's Disease

• Mitochondrial protein import deficits are observed in AD brains
• TIMM50 may play a role in [amyloid-beta](/proteins/amyloid-beta)-induced mitochondrial dysfunction

Leigh Syndrome

Some evidence links TIMM50 dysfunction to Leigh syndrome phenotype.

Expression

TIMM50 shows high expression in:

• Heart (high metabolic demand)
• Brain (especially [cortex](/brain-regions/cortex) and basal ganglia)
• Skeletal muscle
• Liver
• Kidney

Therapeutic Implications

Understanding TIMM50 function may lead to:

• Gene therapy for mitochondrial disorders
• Small molecules to enhance mitochondrial protein import
• Protection strategies for neurodegenerative diseases

See Also

• [Mitochondrial Disorders](/diseases/mitochondrial-disorders)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Mitochondrial Protein Import](/mechanisms/mitochondrial-protein-import)
• [TIM23 Complex](/mechanisms/tim23-complex)
• [Oxidative Phosphorylation](/mechanisms/oxidative-stress-neurodegeneration)

Background

The study of Timm50 Gene Mitochondrial Import Protein 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

Pathway Diagram

The following diagram shows the key molecular relationships involving TIMM50 Gene - Mitochondrial Import Protein discovered through SciDEX knowledge graph analysis: