NEU1
Introduction
Neu1 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.
<div class="infobox infobox-gene"> [@seyrantepe2019]
<div class="infobox-header">NEU1</div> [@van2018]
<div class="infobox-row"><strong>Full Name</strong></div> [@pshezhetsky2016]
<div class="infobox-row">Neuraminidase 1 (Sialidase 1)</div> [@wang2012]
<div class="infobox-row"><strong>Symbol</strong></div> [@caciotti2013]
<div class="infobox-row">NEU1</div> [@hindersson2015]
<div class="infobox-row"><strong>Chromosomal Location</strong></div> [@biglari2020]
<div class="infobox-row">6p21.3</div>
<div class="infobox-row"><strong>NCBI Gene ID</strong></div>
<div class="infobox-row">4758</div>
<div class="infobox-row"><strong>UniProt ID</strong></div>
<div class="infobox-row">Q99519</div>
<div class="infobox-row"><strong>Ensembl ID</strong></div>
<div class="infobox-row">ENSG00000105694</div>
<div class="infobox-row"><strong>Associated Diseases</strong></div>
<div class="infobox-row">Sialidosis Type I/II, Parkinson's Disease, Lysosomal Storage Disorders</div>
</div>
Overview
flowchart TD
NEU1["NEU1"] -->|"therapeutic target"| Als["Als"]
NEU1["NEU1"] -->|"associated with"| AIF1["AIF1"]
HSPA1A["HSPA1A"] -->|"associated with"| NEU1["NEU1"]
style NEU1 fill:#4fc3f7,stroke:#333,color:#000
...NEU1
Introduction
Neu1 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.
<div class="infobox infobox-gene"> [@seyrantepe2019]
<div class="infobox-header">NEU1</div> [@van2018]
<div class="infobox-row"><strong>Full Name</strong></div> [@pshezhetsky2016]
<div class="infobox-row">Neuraminidase 1 (Sialidase 1)</div> [@wang2012]
<div class="infobox-row"><strong>Symbol</strong></div> [@caciotti2013]
<div class="infobox-row">NEU1</div> [@hindersson2015]
<div class="infobox-row"><strong>Chromosomal Location</strong></div> [@biglari2020]
<div class="infobox-row">6p21.3</div>
<div class="infobox-row"><strong>NCBI Gene ID</strong></div>
<div class="infobox-row">4758</div>
<div class="infobox-row"><strong>UniProt ID</strong></div>
<div class="infobox-row">Q99519</div>
<div class="infobox-row"><strong>Ensembl ID</strong></div>
<div class="infobox-row">ENSG00000105694</div>
<div class="infobox-row"><strong>Associated Diseases</strong></div>
<div class="infobox-row">Sialidosis Type I/II, Parkinson's Disease, Lysosomal Storage Disorders</div>
</div>
Overview
Mermaid diagram (expand to render)
This page provides comprehensive information about the subject's role in neurodegenerative diseases. The subject participates in various molecular pathways and cellular processes relevant to Alzheimer's disease, Parkinson's disease, and related conditions.
Function
NEU1 encodes neuraminidase 1, also known as sialidase 1, a lysosomal enzyme that cleaves terminal sialic acid residues from glycoproteins, glycolipids, and oligosaccharides. This enzyme is a key component of the lysosomal catabolic pathway and plays essential roles in maintaining cellular homeostasis.
The protein forms a tetrameric complex with [CTSA](/genes/ctsa) (cathepsin A), [PPCA](/genes/ppca), and NEU2, which is required for its proper localization and stability in the lysosome.
Key functions include:
- Glycoprotein degradation: Cleaving sialic acid residues to expose underlying sugars for further hydrolysis
- Lysosomal function: Essential for proper lysosomal enzyme activity and [autophagy](/entities/autophagy)
- Cell surface remodeling: Modifying glycoconjugates on the cell surface
- Immune regulation: Influencing immune cell function through modification of surface receptors
Disease Associations
Sialidosis
Mutations in NEU1 cause sialidosis, a lysosomal storage disorder characterized by the accumulation of sialylated oligosaccharides. Clinical phenotypes include:
- Sialidosis Type I (cherry red spot-myoclonus syndrome): Onset in adolescence/adulthood, progressive myoclonus, ataxia, and visual impairment
- Sialidosis Type II (mucolipidosis I): Earlier onset with developmental regression, coarse facial features, and skeletal abnormalities
Parkinson's Disease
NEU1 dysfunction has been implicated in Parkinson's disease pathogenesis:
- Lysosomal dysfunction in PD may involve altered sialidase activity
- NEU1 variants have been associated with PD risk in some populations
- [Alpha-synuclein](/proteins/alpha-synuclein) interacts with gangliosides that require NEU1 for proper catabolism
Alzheimer's Disease
Evidence suggests NEU1 may play a role in AD pathophysiology:
- Altered sialylation of glycoproteins in AD brains
- Potential effects on [amyloid precursor protein](/entities/app-protein) (APP) processing
- Role in neuroinflammation through modification of immune cell receptors
Expression
NEU1 is widely expressed with highest levels in:
- Liver: Highest expression
- Brain: [Neurons](/entities/neurons), [astrocytes](/entities/astrocytes), [microglia](/cell-types/microglia-neuroinflammation)
- Kidney: Tubular epithelial cells
- Spleen and lymphoid tissues
- Muscle: Skeletal muscle
In the brain, NEU1 is expressed in neurons throughout the [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus), basal ganglia, and cerebellum.
Key Publications
[Pattison et al., NEU1 mutations in sialidosis (2004)](https://doi.org/10.1086/383038)
[Miyagi et al., Biological functions of mammalian sialidases (2008)](https://doi.org/10.1016/j.bbagen.2008.02.009)
[Fischer et al., Lysosomal sialidase deficiency in neurodegenerative disease (2015)](https://doi.org/10.1186/s40478-015-0207-1)
[Biol et al., NEU1 and alpha-synuclein aggregation (2017)](https://doi.org/10.1186/s40478-017-0436-5)
[Gagiannis et al., Sialidosis and neurodegeneration (2019)](https://doi.org/10.1007/s00401-019-02014-w)Related Pages
- [CTSA](/genes/ctsa) - Cathepsin A (protective protein)
- [Lysosomal Storage Disorders](/diseases/lysosomal-storage-disorders) - Disease category
- [Parkinson's Disease](/diseases/parkinsons-disease) - Associated disease
- [Alzheimer's Disease](/diseases/alzheimers-disease) - Associated disease
Background
The study of Neu1 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.
See Also
- [Neurodegenerative Diseases - Overview of disease category](/diseases/neurodegeneration)
- [Cell Types - Index of cell type pages](/cell-types)
- [Genes - Index of gene pages](/genes)
- [Proteins - Index of protein pages](/proteins)
- [Mechanisms - Index of mechanism pages](/mechanisms)
Pathway Diagram
The following diagram shows the key molecular relationships involving NEU1 Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)