The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysoso... See more...

Aliases for NEU1 Gene

Aliases for NEU1 Gene

  • Neuraminidase 1 2 3 5
  • Sialidase 1 (Lysosomal Sialidase) 2 3
  • N-Acetyl-Alpha-Neuraminidase 1 3 4
  • Acetylneuraminyl Hydrolase 3 4
  • Lysosomal Sialidase 3 4
  • G9 Sialidase 3 4
  • Sialidase-1 3 4
  • EC 3.2.1.18 4 52
  • NANH 3 4
  • Neuraminidase 1 (Lysosomal Sialidase) 2
  • Exo-Alpha-Sialidase 3
  • SIAL1 3
  • NEU 3

External Ids for NEU1 Gene

Previous HGNC Symbols for NEU1 Gene

  • NEU

Previous GeneCards Identifiers for NEU1 Gene

  • GC06M031898
  • GC06M031597
  • GC06M031931
  • GC06M031934
  • GC06M031825

Summaries for NEU1 Gene

Entrez Gene Summary for NEU1 Gene

  • The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEU1 Gene

NEU1 (Neuraminidase 1) is a Protein Coding gene. Diseases associated with NEU1 include Neuraminidase Deficiency and Hydrops Fetalis, Nonimmune. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include exo-alpha-(2->3)-sialidase activity and exo-alpha-(2->8)-sialidase activity. An important paralog of this gene is NEU4.

UniProtKB/Swiss-Prot Summary for NEU1 Gene

  • Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.

Gene Wiki entry for NEU1 Gene

Additional gene information for NEU1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEU1 Gene

Genomics for NEU1 Gene

GeneHancer (GH) Regulatory Elements for NEU1 Gene

Promoters and enhancers for NEU1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J031861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -1.0 -1040 4.7 EP300 ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 ENSG00000203463-001 NEU1 lnc-NEU1-1 LY6G5B DDX39B ATF6B LSM2 SKIV2L MSH5 GTF2H4
GH06J031733 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3.6 +125.5 125477 8.5 EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 MYC MSH5 CLIC1 MSH5-SAPCD1 LY6G5B DDX39B LSM2 ATF6B GTF2H4 NFKBIL1 MICA
GH06J031910 Enhancer 0.8 ENCODE 11.4 -48.2 -48246 2 JUND FOS ZNF639 AFF1 TOE1 EP300 OSR2 FOSL1 TRIM24 FOSL2 C4A SKIV2L HLA-DRB5 HLA-C MICB MIR1236 NEU1 STK19 GPANK1 LY6G5B
GH06J031928 Enhancer 0.8 ENCODE 11.4 -66.5 -66543 1.2 TEAD1 ZKSCAN8 ZSCAN9 PBX2 KAT7 REST CEBPG SAP130 GABPB1 ELF1 ENSG00000244255 SKIV2L MIR1236 STK19 C4A ZBTB12 C2 EHMT2 NEU1 VARS1
GH06J031918 Enhancer 0.4 Ensembl 11.4 -55.7 -55669 0.8 MITF ATF3 EGR1 ZNF770 ZNF121 piR-43105-571 SKIV2L MIR1236 NEU1 STK19 C4A LY6G5B GPANK1 SAPCD1 RNU6-850P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEU1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEU1

Top Transcription factor binding sites by QIAGEN in the NEU1 gene promoter:
  • Brachyury
  • c-Ets-1
  • GR
  • GR-alpha
  • GR-beta
  • MyoD
  • STAT3
  • Tal-1beta

Genomic Locations for NEU1 Gene

Genomic Locations for NEU1 Gene
chr6:31,857,659-31,862,932
(GRCh38/hg38)
Size:
5,274 bases
Orientation:
Minus strand
chr6:31,825,436-31,830,709
(GRCh37/hg19)
Size:
5,274 bases
Orientation:
Minus strand

Genomic View for NEU1 Gene

Genes around NEU1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEU1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEU1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for NEU1 Gene

  • Protein details for NEU1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99519-NEUR1_HUMAN
    Recommended name:
    Sialidase-1
    Protein Accession:
    Q99519

    Protein attributes for NEU1 Gene

    Size:
    415 amino acids
    Molecular mass:
    45467 Da
    Quaternary structure:
    • Interacts with cathepsin A (protective protein), beta-galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex.

neXtProt entry for NEU1 Gene

Selected DME Specific Peptides for NEU1 Gene

Q99519:
  • RVNLTLRWSFSNGT
  • VASTMLVWSKDDG
  • DFNPDECQPYELPDGSV
  • DQGSTWS
  • APQLYVLYEKGRN
  • DGLNLGAVV
  • LRSYDACDTLRPRDVTFD

Post-translational modifications for NEU1 Gene

  • N-glycosylated.
  • Phosphorylation of tyrosine within the internalization signal results in inhibition of sialidase internalization and blockage on the plasma membrane.
  • Glycosylation at Asn186, Asn343, and Asn352
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NEUR1_HUMAN (1743)

Other Protein References for NEU1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for NEU1 Gene

Gene Families for NEU1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for NEU1 Gene

Suggested Antigen Peptide Sequences for NEU1 Gene

GenScript: Design optimal peptide antigens:
  • N-acetyl-alpha-neuraminidase 1 (NEUR1_HUMAN)
  • cDNA, FLJ93471, Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA (Q5JQI0_HUMAN)
  • NEU1 protein (Q6IBT5_HUMAN)
  • Neurominidase (Q6Q4G7_HUMAN)
  • Neurominidase (Q6Q4G8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99519

UniProtKB/Swiss-Prot:

NEUR1_HUMAN :
  • A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.
  • Belongs to the glycosyl hydrolase 33 family.
Domain:
  • A C-terminal internalization signal (YGTL) appears to allow the targeting of plasma membrane proteins to endosomes.
Family:
  • Belongs to the glycosyl hydrolase 33 family.
genes like me logo Genes that share domains with NEU1: view

Function for NEU1 Gene

Molecular function for NEU1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.; EC=3.2.1.18; Evidence={ECO:0000269 PubMed:14695530, ECO:0000269 PubMed:8985184, ECO:0000269 PubMed:9054950};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 4.6.;
GENATLAS Biochemistry:
neuraminidase,lysosomal,involved in stepwise degradation of complex type of oligosaccharide structure (glycoprotein catabolism),and cleavage of sialic acid from GM1 gangliosides

Enzyme Numbers (IUBMB) for NEU1 Gene

Phenotypes From GWAS Catalog for NEU1 Gene

Gene Ontology (GO) - Molecular Function for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004308 exo-alpha-sialidase activity TAS --
GO:0005515 protein binding IPI 25910212
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
GO:0016997 alpha-sialidase activity IMP 25153125
genes like me logo Genes that share ontologies with NEU1: view
genes like me logo Genes that share phenotypes with NEU1: view

Human Phenotype Ontology for NEU1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEU1 Gene

MGI Knock Outs for NEU1:

miRNA for NEU1 Gene

miRTarBase miRNAs that target NEU1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for NEU1 Gene

Localization for NEU1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEU1 Gene

Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Lysosome. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEU1 gene
Compartment Confidence
lysosome 5
plasma membrane 4
extracellular 4
cytosol 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IBA,IDA 8985184
GO:0005765 lysosomal membrane IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with NEU1: view

Pathways & Interactions for NEU1 Gene

genes like me logo Genes that share pathways with NEU1: view

Gene Ontology (GO) - Biological Process for NEU1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006689 ganglioside catabolic process IBA 21873635
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with NEU1: view

No data available for SIGNOR curated interactions for NEU1 Gene

Drugs & Compounds for NEU1 Gene

(51) Drugs for NEU1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oseltamivir Approved Pharma Target, inhibitor 120
Water Approved Pharma 0
4-acetamido-2,4-didexoy-D-glycero-beta-D-galacto-octopyranosylphosphonic acid Experimental Pharma Target 0
Aceneuramic acid Investigational Pharma 0

(109) Additional Compounds for NEU1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/20:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/22:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with NEU1: view

Transcripts for NEU1 Gene

mRNA/cDNA for NEU1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NEU1 Gene

No ASD Table

Relevant External Links for NEU1 Gene

GeneLoc Exon Structure for
NEU1

Expression for NEU1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEU1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEU1 Gene

This gene is overexpressed in Amniocyte (19.2), Fetal gut (11.3), Urine (7.9), and Liver (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEU1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEU1

SOURCE GeneReport for Unigene cluster for NEU1 Gene:

Hs.520037

mRNA Expression by UniProt/SwissProt for NEU1 Gene:

Q99519-NEUR1_HUMAN
Tissue specificity: Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain.

Evidence on tissue expression from TISSUES for NEU1 Gene

  • Nervous system(4.9)
  • Kidney(4.7)
  • Liver(4.4)
  • Blood(4.2)
  • Skin(3.4)
  • Intestine(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEU1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NEU1: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NEU1 Gene

Orthologs for NEU1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEU1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEU1 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NEU1 31 30
  • 85.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NEU1 31 30
  • 84.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Neu1 17 31 30
  • 83.79 (n)
rat
(Rattus norvegicus)
Mammalia Neu1 30
  • 83.05 (n)
oppossum
(Monodelphis domestica)
Mammalia NEU1 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEU1 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485853 30
  • 60.57 (n)
zebrafish
(Danio rerio)
Actinopterygii neu1 31 30
  • 59.64 (n)
OneToOne
Species where no ortholog for NEU1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEU1 Gene

ENSEMBL:
Gene Tree for NEU1 (if available)
TreeFam:
Gene Tree for NEU1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NEU1: view image

Paralogs for NEU1 Gene

Paralogs for NEU1 Gene

genes like me logo Genes that share paralogs with NEU1: view

Variants for NEU1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEU1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
2448 Pathogenic: Sialidosis, type II 31,860,611(-) TC/T FRAMESHIFT_VARIANT
2455 Pathogenic: Sialidosis, type II 31,860,041(-) C/G SPLICE_DONOR_VARIANT
642392 Uncertain Significance: not provided 31,860,608(-) G/A MISSENSE_VARIANT
716691 Likely Benign: not provided 31,861,371(-) G/A SYNONYMOUS_VARIANT
718316 Likely Benign: not provided 31,861,401(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NEU1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NEU1 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10461n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv508399 CNV deletion 20534489
nsv509126 CNV insertion 20534489

Variation tolerance for NEU1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEU1 Gene

Human Gene Mutation Database (HGMD)
NEU1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEU1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEU1 Gene

Disorders for NEU1 Gene

MalaCards: The human disease database

(39) MalaCards diseases for NEU1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NEU1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEUR1_HUMAN
  • Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. {ECO:0000269 PubMed:10767332, ECO:0000269 PubMed:10944856, ECO:0000269 PubMed:11063730, ECO:0000269 PubMed:11279074, ECO:0000269 PubMed:11829139, ECO:0000269 PubMed:14695530, ECO:0000269 PubMed:25153125, ECO:0000269 PubMed:8985184, ECO:0000269 PubMed:9054950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NEU1 Gene

mucolipidosis,type I,sialidosis,types I and II,hydrops fetalis

Additional Disease Information for NEU1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEU1: view

Publications for NEU1 Gene

  1. Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis. (PMID: 9054950) Pshezhetsky AV … Potier M (Nature genetics 1997) 2 3 4 54
  2. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. (PMID: 8985184) Bonten E … d'Azzo A (Genes & development 1996) 3 4 23 54
  3. In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization. (PMID: 25153125) Bonardi D … Giacopuzzi E (PloS one 2014) 3 4 54
  4. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PMID: 19851445) Barcellos LF … Criswell LA (PLoS genetics 2009) 3 41 54
  5. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. (PMID: 19666471) Bonten EJ … d'Azzo A (The Journal of biological chemistry 2009) 3 23 54

Products for NEU1 Gene

  • Signalway ELISA kits for NEU1
  • Signalway Proteins for NEU1

Sources for NEU1 Gene