NEU1 Gene

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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

...

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.

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)

[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.

Pathway Diagram

The following diagram shows the key molecular relationships involving NEU1 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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NEU1 Gene

NEU1

Introduction

Overview

NEU1

Introduction

Overview

Function

Disease Associations

Sialidosis

Parkinson's Disease

Alzheimer's Disease

Expression

Key Publications

Related Pages

Background

See Also

Pathway Diagram