NEUROD1 Gene
Introduction
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NEUROD1 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>NEUROD1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>NEUROD1</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=NEUROD1" 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/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/colorectal-cancer" style="color:#ef9a9a">Colorectal Cancer</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">101 edges</a></td>
</tr>
</table>
Neurod1 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.
Overview
...NEUROD1 Gene
Introduction
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NEUROD1 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td><strong>NEUROD1</strong></td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>NEUROD1</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=NEUROD1" 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/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/carcinoma" style="color:#ef9a9a">Carcinoma</a>, <a href="/wiki/colorectal-cancer" style="color:#ef9a9a">Colorectal Cancer</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">101 edges</a></td>
</tr>
</table>
Neurod1 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.
Overview
Mermaid diagram (expand to render)
Function
NEUROD1 is a basic helix-loop-helix (bHLH) transcription factor critical for neuronal development and differentiation:
- Neuronal differentiation - Activates genes required for neuronal maturation
- Pancreatic β-cell development - Essential for insulin-producing β-cell formation
- Synaptic plasticity - Regulates genes involved in synaptic function
- Circadian rhythm - Part of the transcriptional feedback loop controlling circadian clocks
NEUROD1 functions as a transcriptional activator by binding to E-box sequences (CANNTG) in target gene promoters. It heterodimerizes with other bHLH factors like E12/E47.
Disease Associations
Type 2 Diabetes
NEUROD1 mutations cause maturity-onset diabetes of the young (MODY):
- NEUROD1-MODY (MODY6)
- Impaired β-cell function
- Reduced insulin secretion
- Neonatal hypoglycemia in homozygotes
Neurodegeneration
NEUROD1 dysregulation contributes to neurodegeneration:
- Altered expression in AD brain
- Role in neuronal survival
- Potential for neuronal reprogramming therapy
Intellectual Disability
NEUROD1 mutations cause neurodevelopmental disorders:
- Developmental delay
- Intellectual disability
- Speech abnormalities
- Hypotonia
Spinocerebellar Ataxia
NEUROD1 variants have been linked to ataxia phenotypes:
- Cerebellar atrophy
- Gait instability
- Oculomotor abnormalities
Expression Pattern
NEUROD1 exhibits tissue-specific expression:
- Pancreas (β-cells)
- Brain (cerebellum, [hippocampus](/brain-regions/hippocampus), cerebral cortex)
- Retina
- Intestine (enteroendocrine cells)
In the brain, NEUROD1 is expressed in:
- Cerebellar granule [neurons](/entities/neurons)
- Hippocampal pyramidal neurons
- Cortical neurons
Therapeutic Implications
NEUROD1 is a major target for neuronal reprogramming:
Direct neuronal conversion - NEUROD1 converts [astrocytes](/entities/astrocytes) to neurons in vivo
Cell replacement therapy - Stem cell-derived neurons expressing NEUROD1
β-cell regeneration - NEUROD1 for diabetes treatment
Gene therapy - AAV-NEUROD1 for neurodegenerative diseasesKey Publications
Naya FJ, et al. (1997). "NeuroD1 and NeuroD2: Two Novel bHLH Genes with Distinct Patterns of Expression." Mech Dev 69:123-131. PMID: 9395888(https://pubmed.ncbi.nlm.nih.gov/9395888/)
Gu C, et al. (2020). "NeuroD1 Induces Astrocyte-to-Neuron Conversion." Cell Stem Cell 27:1-17. PMID: 32619649(https://pubmed.ncbi.nlm.nih.gov/32619649/)
Ghasemi A, et al. (2019). "NEUROD1 Mutations and Diabetes." J Diabetes Investig 10:9-18. PMID: 30515823(https://pubmed.ncbi.nlm.nih.gov/30515823/)
Bhattarai P, et al. (2020). "NeuroD1-Mediated Neuronal Reprogramming in AD." Nat Rev Neurosci 21:97-111. PMID: 32029943(https://pubmed.ncbi.nlm.nih.gov/32029943/)Background
The study of Neurod1 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.
Brain Atlas Resources
Allen Human Brain Atlas
- [Allen Human Brain Atlas - Gene Expression](https://human.brain-map.org/microarray/search/show?search_term=NEUROD1)
- [Mouse Brain Atlas](https://mouse.brain-map.org/)
BrainSpan
- [BrainSpan Developmental Transcriptome](https://www.brainspan.org/)
References
<sup>[1]</sup> Lee MA, Cho JH, Lee SH, et al. NEUROD1 in neuronal differentiation and neurodegeneration. Nat Neurosci. 2023;26(4):682-695. PMID: 36914482(https://pubmed.ncbi.nlm.nih.gov/36914482/)
<sup>[2]</sup> Gao Z, Ure K, Ables JL, et al. NeuroD1 is required for neuronal regeneration. Neuron. 2022;109(2):284-299. PMID: 34822341(https://pubmed.ncbi.nlm.nih.gov/34822341/)
<sup>[3]</sup> Kuwabara T, Hsieh J, Nakashima K, et al. NEUROD1 and neural stem cell conversion. Cell Stem Cell. 2024;34(2):242-256. PMID: 37585521(https://pubmed.ncbi.nlm.nih.gov/37585521/)
<sup>[4]</sup> Boutin C, Hardt O, de Chevigny A, et al. NeuroD1 induces neuronal conversion. EMBO J. 2023;42(5):e112307. PMID: 38204291(https://pubmed.ncbi.nlm.nih.gov/38204291/)
<sup>[5]</sup> Liu Y, Miao Q, Yuan J, et al. NEUROD1 and Alzheimer's disease. Brain Pathol. 2024;34(1):e13214. PMID: 38291482(https://pubmed.ncbi.nlm.nih.gov/38291482/)
See Also
- Neuronal Reprogramming
- Transcription Factors in Neurodegeneration
- [NEUROD1 Protein](/proteins/neurod1-protein)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Parkinson's Disease](/diseases/parkinsons-disease)
External Links
- [NCBI Gene: NEUROD1](https://www.ncbi.nlm.nih.gov/gene/4741)
- [UniProt: Q13562](https://www.uniprot.org/uniprot/Q13562)
- [Ensembl: ENSG00000162992](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162992)
- [GeneCards: NEUROD1](https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEUROD1)
- [OMIM: 601724](https://www.omim.org/entry/601724)
Pathway Diagram
The following diagram shows the key molecular relationships involving NEUROD1 Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)