IDH1 Gene - Isocitrate Dehydrogenase 1

IDH1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">IDH1 Gene - Isocitrate Dehydrogenase 1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>IDH1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Isocitrate Dehydrogenase 1 (NADP+)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>2q33.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>3417</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000138449</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>O75874</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/ad" style="color:#ef9a9a">AD</a>, <a href="/wiki/adh" style="color:#ef9a9a">ADH</a>, <a href="/wiki/ali" style="color:#ef9a9a">ALI</a>, <a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/ami" style="color:#ef9a9a">AMI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">284 edges</a></td>
</tr>
</table>

Pathway Diagram

IDH1 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">IDH1 Gene - Isocitrate Dehydrogenase 1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>IDH1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Isocitrate Dehydrogenase 1 (NADP+)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>2q33.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>3417</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000138449</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>O75874</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/ad" style="color:#ef9a9a">AD</a>, <a href="/wiki/adh" style="color:#ef9a9a">ADH</a>, <a href="/wiki/ali" style="color:#ef9a9a">ALI</a>, <a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/ami" style="color:#ef9a9a">AMI</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">284 edges</a></td>
</tr>
</table>

Pathway Diagram

Overview

Idh1 Gene Isocitrate Dehydrogenase 1 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

Idh1 Gene Isocitrate Dehydrogenase 1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@supsup2022]

IDH1 (Isocitrate Dehydrogenase 1)[@supsup2013] encodes a cytosolic enzyme that catalyzes the oxidative decarboxylation of isocitrate to α-ketoglutarate, playing crucial roles in cellular metabolism and oxidative stress response. [@supsup2021]

Gene Overview

Function

IDH1 is a NADP+-dependent enzyme localized primarily in the cytosol and peroxisomes. It catalyzes the reversible oxidation of isocitrate to α-ketoglutarate (α-KG), producing NADPH.

Key Functions:

• NADPH Production: Generates NADPH for antioxidant defense and biosynthetic reactions
• Cellular Metabolism: Part of the tricarboxylic acid cycle
• Oxidative Stress Protection: NADPH supports glutathione reductase
• Epigenetic Regulation: Produces α-KG, a cofactor for dioxygenases

Disease Associations

Alzheimer's Disease

• IDH1 activity is reduced in AD brain
• Impaired NADPH production contributes to oxidative stress
• α-KG deficiency affects histone demethylation
• Metabolic alterations in AD neurons

Parkinson's Disease

• IDH1 polymorphisms associated with PD risk
• Reduced IDH1 in substantia nigra
• Contributes to dopaminergic neuron vulnerability

Gliomas

• IDH1 mutations are common in low-grade gliomas
• Produce 2-hydroxyglutarate (2-HG) oncometabolite
• Affects epigenetic regulation

Expression

IDH1 is expressed in:

• [Neurons](/entities/neurons) (moderate)
• [Astrocytes](/entities/astrocytes) (high)
• Oligodendrocytes
• Various peripheral tissues

Overview

Idh1 Gene Isocitrate Dehydrogenase 1 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 Idh1 Gene Isocitrate Dehydrogenase 1 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

<sup><a href="#references">[1]</a></sup] Yang R, et al. IDH1 mutations in neurodegeneration. Nature Reviews Neurology. 2023;19(5):299-313. [DOI:10.1038/s41582-023-00739-x](https://doi.org/10.1038/s41582-023-00739-x)

<sup><a href="#references">[2]</a></sup] Shimada K, et al. IDH1 and 2-hydroxyglutarate in brain metabolism. Cell Metabolism. 2022;34(2):186-197. [DOI:10.1016/j.cmet.2021.12.007](https://doi.org/10.1016/j.cmet.2021.12.007)

<sup><a href="#references">[3]</a></sup] Koivunen P, et al. IDH mutations in glioma and Alzheimer's disease. Acta Neuropathologica. 2022;143(3):317-332. [DOI:10.1007/s00401-021-02387-3](https://doi.org/10.1007/s00401-021-02387-3)

<sup><a href="#references">[4]</a></sup] Lu W, et al. IDH1 deficiency in neurons and neurodegeneration. Journal of Neuroscience. 2021;41(42):8769-8782. [DOI:10.1523/JNEUROSCI.1543-21.2021](https://doi.org/10.1523/JNEUROSCI.1543-21.2021)

<sup><a href="#references">[5]</a></sup] Wen L, et al. Isocitrate dehydrogenase in brain aging and AD. Aging Cell. 2023;22(2):e13789. [DOI:10.1111/acel.13789](https://doi.org/10.1111/acel.13789)

<sup><a href="#references">[6]</a></sup] Toker L, et al. IDH1 and NADPH in oxidative stress. Redox Biology. 2020;37:101692. [DOI:10.1016/j.redox.2020.101692](https://doi.org/10.1016/j.redox.2020.101692)

<sup><a href="#references">[7]</a></sup] Masui K, et al. IDH1 in cancer metabolism and therapy. Molecular Cancer Therapeutics. 2022;21(11):1611-1622. [DOI:10.1158/1535-7163.MCT-22-0218](https://doi.org/10.1158/1535-7163.MCT-22-0218)

<sup><a href="#references">[8]</a></sup] Song Y, et al. Targeting IDH1 in neurodegenerative diseases. Drug Discovery Today. 2024;29(1):103823. [DOI:10.1016/j.drudis.2023.103823](https://doi.org/10.1016/j.drudis.2023.103823)

See Also

• [IDH1 Protein](/proteins/idh1-protein)
• IDH2 Gene
• Mitochondrial Metabolism
• [Oxidative Stress](/mechanisms/oxidative-stress)

Pathway Diagram

The following diagram shows the key molecular relationships involving IDH1 Gene - Isocitrate Dehydrogenase 1 discovered through SciDEX knowledge graph analysis: