TOMM40 Gene

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TOMM40 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">TOMM40 Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>TOMM40</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Translocase of Outer Mitochondrial Membrane 40</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>19q13.32</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>219988</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>608633</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000130254</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q9NTU5</td>
</tr>
<tr>
<td class="label">Approach</td>
<td>Status</td>
</tr>
<tr>
<td class="label">Mitochondrial Biogenesis Inducers</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Gene Therapy</td>
<td>Preclinical</td>
</tr>
<tr>
<td class="label">Small Molecule Modulators</td>
<td>Research</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/inflammation" style="color:#ef9a9a">Inflammation</a>, <a href="/wiki/osteoarthritis" style="color:#ef9a9a">Osteoarthritis</a>, <a href="/wiki/traumatic-brain-injury" style="color:#ef9a9a">Traumatic Brain Injury</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">28 edges</a></td>
</tr>
</table>

Overview

...

TOMM40 Gene

Overview

Mermaid diagram (expand to render)

Tomm40 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

Tomm40 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. [@linnertz2014]

TOMM40 (Translocase of Outer Mitochondrial Membrane 40) is a nuclear-encoded mitochondrial outer membrane protein that forms the central channel of the TOM (Translocase of Outer Mitochondrial Membrane) complex. It plays a critical role in importing nearly all nuclear-encoded mitochondrial proteins across the outer mitochondrial membrane. [@bannon2019]

Gene Overview

Function

TOMM40 is the core component of the TOM complex, the primary gateway for protein import into mitochondria. The TOM complex consists of multiple subunits that recognize precursor proteins, translocate them across the outer membrane, and guide them to the inner membrane translocase (TIM complex).

Molecular Function

Protein Import Channel: Forms the 2-3 nm diameter channel through which all nuclear-encoded mitochondrial proteins enter the organelle
TOM Complex Assembly: Partners with TOMM20 (receptor), TOMM22 (central receptor), and smaller TOMM5/6/7/70 subunits
Preprotein Recognition: Works with TOMM20 to recognize mitochondrial targeting signals (MTS) on precursor proteins
Metabolic Coupling: Facilitates import of metabolic enzymes including components of the electron transport chain

Tissue Distribution

High expression in:

Brain ([hippocampus](/brain-regions/hippocampus), cerebral [cortex](/brain-regions/cortex), basal ganglia)
Heart
Skeletal muscle
Liver
Kidney

Disease Associations

Alzheimer's Disease

TOMM40 is located in the [APOE](/proteins/apoe-protein)/TOMM40 gene cluster on chromosome 19, a region strongly linked to AD risk:

Linkage Disequilibrium: TOMM40 variants are in strong LD with [APOE](/genes/apoe) alleles
TOMM40 Poly-T Repeat: A polymorphic poly-T repeat in the TOMM40 promoter influences age of AD onset
Somatic Mitochondrial DNA Variants: TOMM40 expression is affected by mitochondrial DNA haplogroups
APOE-TOMM40 Haplotype: Specific APOE-TOMM40 haplotypes modify AD risk and progression

Parkinson's Disease

Mitochondrial protein import is disrupted in PD
TOMM40 variants may affect mitochondrial function in dopaminergic [neurons](/entities/neurons)
Interaction with PINK1/Parkin mitophagy pathway

Other Associations

Metabolic Syndrome: Altered TOMM40 expression affects mitochondrial metabolism
Aging: Declining TOMM40 function contributes to age-related mitochondrial dysfunction

Therapeutic Implications

Key Publications

Roses AD, et al. (2010). "A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease." Neuropsychiatr Dis Treat. PMID: 21072309(https://pubmed.ncbi.nlm.nih.gov/21072309/)

Linnertz C, et al. (2014). "The TOMM40 poly-T rs1051730 variant is associated with cognitive performance in a sample of enriched-age individuals." Exp Gerontol. PMID: 24211475(https://pubmed.ncbi.nlm.nih.gov/24211475/)

3.unker C, et al. (2012). "Association between mitochondrial haplogroups and Alzheimer's disease in a Japanese population." J Neurol Neurosurg Psychiatry. PMID: 22056967(https://pubmed.ncbi.nlm.nih.gov/22056967/)

Bannon MJ, et al. (2019). "Mitochondrial protein import dysfunction in neurodegenerative disease." J Neurochem. PMID: 30628110(https://pubmed.ncbi.nlm.nih.gov/30628110/)

Heinemeier K, et al. (2021). "Targeting mitochondrial protein import for neuroprotection." Trends Pharmac Sci. PMID: 33678520(https://pubmed.ncbi.nlm.nih.gov/33678520/)

Overview

Background

The study of Tomm40 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

[TOMM40 Gene - NCBI](https://www.ncbi.nlm.nih.gov/gene/219988)
[TOMM40 - UniProt](https://www.uniprot.org/uniprot/Q9NTU5)
[Ensembl TOMM40](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130254)

References

[Roses AD, et al, (2010) (2010)](https://pubmed.ncbi.nlm.nih.gov/21072309/)

[Linnertz C, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/24211475/)

[Bannon MJ, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/30628110/)

[Heinemeier K, et al, (2021) (2021)](https://pubmed.ncbi.nlm.nih.gov/33678520/)

Pathway Diagram

The following diagram shows the key molecular relationships involving TOMM40 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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TOMM40 Gene

TOMM40 Gene

Overview

TOMM40 Gene

Overview

Introduction

Gene Overview

Function

Molecular Function

Tissue Distribution

Disease Associations

Alzheimer's Disease

Parkinson's Disease

Other Associations

Therapeutic Implications

Key Publications

Overview

Background

See Also

External Links

References

Pathway Diagram