IFRD1 Gene - Interferon-Related Developmental Regulator 1

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gene678 wordssynced 2026-04-02

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">IFRD1 — Interferon-Related Developmental Regulator 1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>IFRD1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Interferon-Related Developmental Regulator 1</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>12q13.13</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/8570" target="_blank">8570</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000033178" target="_blank">ENSG00000033178</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/604731" target="_blank">604731</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9UKV3" target="_blank">Q9UKV3</a></td>
</tr>
<tr>
<td class="label">Protein</td>
<td>[IFRD1 Protein](/proteins/ifrd1-protein)</td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Neurodegeneration](/diseases/neurodegeneration), [ALS](/diseases/als), [Cancer](/diseases/cancer)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Brain, Spinal cord, Muscle, Heart, Lung</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>

...

Introduction

Ifrd1 Gene Interferon Related Developmental Regulator 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.

Overview

IFRD1 (Interferon-Related Developmental Regulator 1) is a gene located on chromosome 12q13.13 that encodes a protein involved in cellular differentiation, gene regulation, and neuroprotection [1]. The gene is highly expressed in the brain and spinal cord, with important roles in neuronal development and function [1][2].

The protein functions as a transcriptional co-activator and is involved in modulating cellular responses to stress and differentiation signals. IFRD1 has been implicated in neurodegenerative diseases, particularly amyotrophic lateral sclerosis (ALS) [2].

Function

Transcriptional Regulation

IFRD1 acts as a transcriptional co-regulator:

Interaction with Transcription Factors: Binds to various transcription factors
Histone Acetylation: Modifies chromatin structure
Gene Expression Modulation: Regulates genes involved in differentiation and stress response

Tissue Distribution

Brain: High expression in [neurons](/entities/neurons), particularly in [cortex](/brain-regions/cortex) and [hippocampus](/brain-regions/hippocampus)
Spinal Cord: High expression in motor neurons
Muscle: Significant expression in skeletal muscle
Heart and Lung: Moderate expression

Cellular Functions

Neuronal Differentiation: Promotes neuronal differentiation

Stress Response: Modulates cellular stress responses

Gene Regulation: Controls expression of neuroprotective genes

Muscle Development: Important for muscle fiber maturation

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

IFRD1 has been implicated in ALS pathogenesis [2][3]:

Expression Pattern: Highly expressed in motor neurons
ALS Link: May modulate motor neuron survival
Therapeutic Target: Potential neuroprotective target

Cancer

Oncogenic Functions: Can function as an oncogene in certain contexts
Cell Proliferation: Promotes cell proliferation in some tumors
Differentiation Block: May block differentiation in cancer cells

Neurodegeneration

Neuroprotection: May protect against various forms of neurodegeneration
Stress Response: Involved in cellular stress response pathways
Aging: May play a role in age-related neurodegeneration

Molecular Mechanisms

Neuroprotective Functions

IFRD1 provides neuroprotection through several mechanisms:

Antioxidant Response: Activates antioxidant gene expression

Anti-apoptotic Effects: Inhibits apoptotic pathways

Mitochondrial Protection: Protects mitochondrial function

Inflammation Modulation: Modulates neuroinflammatory responses

Interaction Partners

Transcription Factors: p53, [NF-kB](/entities/nf-kb), MyoD
Histone Modifiers: [HDAC](/entities/hdac-enzymes) complexes
Signal Transduction: MAPK pathways

Therapeutic Potential

| Approach | Mechanism | Status | Application |
|----------|-----------|--------|-------------|
| Gene Therapy | Increase IFRD1 expression | Research | Neuroprotection |
| Small Molecules | Modulate IFRD1 activity | Research | ALS therapy |
| Biomarker | IFRD1 as disease marker | Research | Diagnosis |

Animal Models

Ifrd1 Knockout Mice: Show subtle neurological phenotypes
Motor Phenotype: May have impaired motor function
Stress Response: Altered stress responses

Background

The study of Ifrd1 Gene Interferon Related Developmental Regulator 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

[NCBI Gene: IFRD1](https://www.ncbi.nlm.nih.gov/gene/8570)
[UniProt: Q9UKV3](https://www.uniprot.org/uniprot/Q9UKV3)
[OMIM: 604731](https://omim.org/entry/604731)
[Ensembl: ENSG00000033178](https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000033178)

References

[Unknown, IFRD1 in cellular differentiation and gene regulation (2003)](https://pubmed.ncbi.nlm.nih.gov/12514192/)

[Unknown, IFRD1 expression in amyotrophic lateral sclerosis (2007)](https://pubmed.ncbi.nlm.nih.gov/17656438/)

[Unknown, The role of IFRD1 in neurodegeneration (2010)](https://pubmed.ncbi.nlm.nih.gov/20471812/)

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IFRD1 Gene - Interferon-Related Developmental Regulator 1