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SNCA Gene(Protein Coding)

Synuclein Alpha

GCID:
GC04M089724
GIFtS:
61
Genes Participants
UDN Logo

Aliases for SNCA Gene

Aliases for SNCA Gene

  • Synuclein Alpha 2 3 5
  • Synuclein, Alpha (Non A4 Component Of Amyloid Precursor) 2 3
  • Alpha-Synuclein 2 3
  • PARK1 3 4
  • NACP 3 4
  • Parkinson Disease (Autosomal Dominant, Lewy Body) 4 2
  • Non A4 Component Of Amyloid Precursor 2
  • Non-A4 Component Of Amyloid Precursor 4
  • Non A-Beta Component Of AD Amyloid 3
  • Non-A Beta Component Of AD Amyloid 4
  • Synuclein Alpha-140 3
  • α-Synuclein 2
  • PARK4 3
  • PD1 3

External Ids for SNCA Gene

Previous HGNC Symbols for SNCA Gene

  • PARK1
  • PARK4

Previous GeneCards Identifiers for SNCA Gene

  • GC04M090804
  • GC04M090948
  • GC04M091105
  • GC04M091003
  • GC04M090646
  • GC04M086396

Summaries for SNCA Gene

Entrez Gene Summary for SNCA Gene

  • Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimer's disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for SNCA Gene

SNCA (Synuclein Alpha) is a Protein Coding gene. Diseases associated with SNCA include Dementia, Lewy Body and Parkinson Disease 1, Autosomal Dominant. Among its related pathways are Ectoderm Differentiation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is SNCB.

UniProtKB/Swiss-Prot for SNCA Gene

  • May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation.

Gene Wiki entry for SNCA Gene

Additional gene information for SNCA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNCA Gene

Genomics for SNCA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SNCA Gene

Promoters and enhancers for SNCA 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
GH04I089835 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 562.9 +1.2 1163 2.5 KLF17 ZNF76 NFXL1 BMI1 ZNF2 ZNF335 GLIS2 EGR1 ZNF366 SCRT2 SNCA SNCA-AS1
GH04I089894 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -59.8 -59774 7.9 HDGF CTCF PKNOX1 JUN EBF1 YBX1 RAD21 POLR2A ZNF143 SMC3 MMRN1 SNCA LOC105377331
GH04I088997 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.4 +838.3 838300 5.5 PKNOX1 ATF1 FOXA2 FEZF1 ELK1 ATF7 REST TSHZ1 ZNF592 MEF2D FAM13A FAM13A-AS1 TIGD2 NAP1L5 SNCA GC04M088970 GC04P089101
GH04I089752 Enhancer 1.1 Ensembl ENCODE 4.6 +84.5 84546 2.4 PKNOX1 INSM2 FEZF1 ZEB1 ZNF366 ZSCAN5C SCRT2 SMARCC2 FOS SP3 MMRN1 SNCA ENSG00000276542 ENSG00000277695 SNCA-AS1
GH04I089994 Enhancer 1.1 VISTA ENCODE 4.3 -158.7 -158700 5.8 CTCF SOX5 SOX13 FOXA2 RXRA FOXA3 ZFP64 ZSCAN4 EBF1 POLR2A CCSER1 SNCA LOC105377331 MMRN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNCA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNCA gene promoter:

Genomic Locations for SNCA Gene

Genomic Locations for SNCA Gene
chr4:89,724,099-89,838,315
(GRCh38/hg38)
Size:
114,217 bases
Orientation:
Minus strand
chr4:90,645,250-90,759,466
(GRCh37/hg19)

Genomic View for SNCA Gene

Genes around SNCA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for SNCA Gene

Proteins for SNCA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P37840-SYUA_HUMAN
    Recommended name:
    Alpha-synuclein
    Protein Accession:
    P37840
    Secondary Accessions:
    • A8K2A4
    • Q13701
    • Q4JHI3
    • Q6IAU6

    Protein attributes for SNCA Gene

    Size:
    140 amino acids
    Molecular mass:
    14460 Da
    Quaternary structure:
    • Soluble monomer which can form filamentous aggregates. Interacts with UCHL1 (By similarity). Interacts with phospholipase D and histones.

    Three dimensional structures from OCA and Proteopedia for SNCA Gene

    Alternative splice isoforms for SNCA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNCA Gene

Protein Expression for SNCA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SNCA Gene

  • Acetylation at Met-1 seems to be important for proper folding and native oligomeric structure.
  • Hallmark lesions of neurodegenerative synucleinopathies contain alpha-synuclein that is modified by nitration of tyrosine residues and possibly by dityrosine cross-linking to generated stable oligomers.
  • Phosphorylated, predominantly on serine residues. Phosphorylation by CK1 appears to occur on residues distinct from the residue phosphorylated by other kinases. Phosphorylation of Ser-129 is selective and extensive in synucleinopathy lesions. In vitro, phosphorylation at Ser-129 promoted insoluble fibril formation. Phosphorylated on Tyr-125 by a PTK2B-dependent pathway upon osmotic stress.
  • Ubiquitinated. The predominant conjugate is the diubiquitinated form (By similarity).
  • Glycosylation at posLast=5454
  • Modification sites at PhosphoSitePlus

Other Protein References for SNCA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for SNCA (alpha-Synuclein)

No data available for DME Specific Peptides for SNCA Gene

Domains & Families for SNCA Gene

Gene Families for SNCA Gene

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

Protein Domains for SNCA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SNCA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P37840

UniProtKB/Swiss-Prot:

SYUA_HUMAN :
  • The non A-beta component of Alzheimer disease amyloid plaque domain (NAC domain) is involved in fibrils formation. The middle hydrophobic region forms the core of the filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments.
  • Belongs to the synuclein family.
Domain:
  • The non A-beta component of Alzheimer disease amyloid plaque domain (NAC domain) is involved in fibrils formation. The middle hydrophobic region forms the core of the filaments. The C-terminus may regulate aggregation and determine the diameter of the filaments.
Family:
  • Belongs to the synuclein family.
genes like me logo Genes that share domains with SNCA: view

Function for SNCA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SNCA Gene

GENATLAS Biochemistry:
alpha synuclein,homolog to rat brain synuclein,non A/beta component of Alzheimer amyloid precursor alpha,expressed in presynaptic nerve terminals,also expressed in various areas of the brain including the substantia nigra,thalamus,hippocampus,amygdala,corpus callosum,caudate nucleus associating with PRKC and other proteins also binding to 14-3-3 (YWAHs) and acting as a potential chaperone,interacting with synphilin 1 (SNCAIP),putatively involved in exocytosis of synaptic vesicles,contributing to cell death in neurodegenerative diseases and accumulating in dentritic neurites and in Lewy bodies.
UniProtKB/Swiss-Prot Function:
May be involved in the regulation of dopamine release and transport. Induces fibrillization of microtubule-associated protein tau. Reduces neuronal responsiveness to various apoptotic stimuli, leading to a decreased caspase-3 activation.

Phenotypes From GWAS Catalog for SNCA Gene

Gene Ontology (GO) - Molecular Function for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 11850416
GO:0005504 NOT fatty acid binding IDA 16687662
GO:0005507 copper ion binding IDA 21319811
GO:0005509 calcium ion binding IDA 11312271
GO:0005515 protein binding IPI 10319874
genes like me logo Genes that share ontologies with SNCA: view
genes like me logo Genes that share phenotypes with SNCA: view

Human Phenotype Ontology for SNCA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SNCA Gene

MGI Knock Outs for SNCA:

Animal Model Products

miRNA for SNCA Gene

miRTarBase miRNAs that target SNCA

Clone Products

  • Addgene plasmids for SNCA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SNCA Gene

Localization for SNCA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNCA Gene

Cytoplasm, cytosol. Membrane. Nucleus. Cell junction, synapse. Secreted. Note=Membrane-bound in dopaminergic neurons. {ECO:0000269 PubMed:15282274}.

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 SNCA gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
lysosome 5
endoplasmic reticulum 3
golgi apparatus 3
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,TAS --
GO:0005615 extracellular space IDA 24936070
GO:0005634 nucleus IEA,IDA 12406186
GO:0005640 nuclear outer membrane IEA --
GO:0005737 cytoplasm IDA 12406186
genes like me logo Genes that share ontologies with SNCA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SNCA Gene

Pathways & Interactions for SNCA Gene

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

Pathways by source for SNCA Gene

2 Reactome pathways for SNCA Gene
2 KEGG pathways for SNCA Gene
1 GeneGo (Thomson Reuters) pathway for SNCA Gene
1 Cell Signaling Technology pathway for SNCA Gene

SIGNOR curated interactions for SNCA Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SNCA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS 24252804
GO:0001774 microglial cell activation TAS 24252804
GO:0001921 positive regulation of receptor recycling IDA 18980610
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001956 positive regulation of neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with SNCA: view

Drugs & Compounds for SNCA Gene

Products:

  1. Drug

(54) Drugs for SNCA Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Resveratrol Approved, Experimental, Investigational Pharma Target Cyclooxygenase inhibitor 126

(46) Additional Compounds for SNCA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
 15438-31-0
genes like me logo Genes that share compounds with SNCA: view

Transcripts for SNCA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SNCA Gene

(12) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(241) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SNCA Gene

Synuclein, alpha (non A4 component of amyloid precursor):
Representative Sequences:

Clone Products

  • Addgene plasmids for SNCA

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c · 9d · 9e
SP1: - - - -
SP2: - - -
SP3: - -
SP4: -
SP5: - - -
SP6:

Relevant External Links for SNCA Gene

GeneLoc Exon Structure for
SNCA
ECgene alternative splicing isoforms for
SNCA

Expression for SNCA Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for SNCA Gene
mRNA expression by BioGPS for SNCA GenemRNA expression by GTEx for SNCA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SNCA Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.2), Brain - Frontal Cortex (BA9) (x5.2), and Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for SNCA Gene

This gene is overexpressed in Brain (22.8) and Peripheral blood mononuclear cells (6.2).

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



NURSA nuclear receptor signaling pathways regulating expression of SNCA Gene:

SNCA

SOURCE GeneReport for Unigene cluster for SNCA Gene:

Hs.21374

mRNA Expression by UniProt/SwissProt for SNCA Gene:

P37840-SYUA_HUMAN
Tissue specificity: Expressed principally in brain but is also expressed in low concentrations in all tissues examined except in liver. Concentrated in presynaptic nerve terminals.

Evidence on tissue expression from TISSUES for SNCA Gene

  • Nervous system(4.9)
  • Bone marrow(2.9)
  • Kidney(2.8)
  • Blood(2.5)
  • Adrenal gland(2.2)
  • Skin(2.2)
  • Muscle(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • olfactory bulb
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SNCA: view

No data available for Protein tissue co-expression partners for SNCA Gene

Orthologs for SNCA Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNCA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SNCA 33 34
  • 100 (n)
dog
(Canis familiaris)
 Mammalia SNCA 33 34
  • 94.05 (n)
cow
(Bos Taurus)
 Mammalia SNCA 33 34
  • 92.38 (n)
mouse
(Mus musculus)
 Mammalia Snca 33 16 34
  • 90.71 (n)
rat
(Rattus norvegicus)
 Mammalia Snca 33
  • 89.76 (n)
chicken
(Gallus gallus)
 Aves SNCA 33 34
  • 85 (n)
lizard
(Anolis carolinensis)
 Reptilia SNCA 34
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia snca 33
  • 80.05 (n)
Str.12735 33
African clawed frog
(Xenopus laevis)
 Amphibia snca-prov 33
zebrafish
(Danio rerio)
 Actinopterygii sncga 34
  • 51 (a)
 ManyToMany
Species where no ortholog for SNCA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 SNCA Gene

ENSEMBL:
Gene Tree for SNCA (if available)
TreeFam:
Gene Tree for SNCA (if available)

Paralogs for SNCA Gene

Paralogs for SNCA Gene

(3) SIMAP similar genes for SNCA Gene using alignment to 7 proteins:

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

Variants for SNCA Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SNCA Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10024743 likely-benign, Parkinson Disease, Dominant 89,726,489(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1045722 benign, Parkinson Disease, Dominant 89,724,520(-) T/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs104893875 pathogenic, Lewy body dementia, Dementia Lewy body (DLB) [MIM:127750], Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,828,170(-) C/T coding_sequence_variant, missense_variant
rs104893877 pathogenic, Parkinson disease 1, Lewy body dementia, Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,828,149(-) C/T coding_sequence_variant, missense_variant
rs104893878 pathogenic, Parkinson disease 1, Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] 89,835,580(-) C/G coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2676889 CNV deletion 23128226
esv3564227 CNV deletion 23714750
esv3569579 CNV loss 25503493
esv3569580 CNV loss 25503493
esv3569581 CNV loss 25503493
nsv1012406 CNV loss 25217958
nsv1139284 CNV deletion 24896259
nsv461576 CNV gain 19166990
nsv477626 CNV novel sequence insertion 20440878
nsv594806 CNV gain 21841781
nsv966296 CNV duplication 23825009

Variation tolerance for SNCA Gene

Residual Variation Intolerance Score: 57.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.56; 12.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SNCA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SNCA Gene

MalaCards: The human disease database

(88) MalaCards diseases for SNCA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

SYUA_HUMAN
  • Dementia Lewy body (DLB) [MIM:127750]: A neurodegenerative disorder characterized by mental impairment leading to dementia, parkinsonism, fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Brainstem or cortical intraneuronal accumulations of aggregated proteins (Lewy bodies) are the only essential pathologic features. Patients may also have hippocampal and neocortical senile plaques, sometimes in sufficient number to fulfill the diagnostic criteria for Alzheimer disease. {ECO:0000269 PubMed:14755719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Genetic alterations of SNCA resulting in aberrant polymerization into fibrils, are associated with several neurodegenerative diseases (synucleinopathies). SNCA fibrillar aggregates represent the major non A-beta component of Alzheimer disease amyloid plaque, and a major component of Lewy body inclusions. They are also found within Lewy body (LB)-like intraneuronal inclusions, glial inclusions and axonal spheroids in neurodegeneration with brain iron accumulation type 1.
  • Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:14755719, ECO:0000269 PubMed:23427326, ECO:0000269 PubMed:23457019, ECO:0000269 PubMed:24936070, ECO:0000269 PubMed:25561023, ECO:0000269 PubMed:9197268, ECO:0000269 PubMed:9462735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Parkinson disease 4, autosomal dominant (PARK4) [MIM:605543]: A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SNCA

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 SNCA: view

No data available for Genatlas for SNCA Gene

Publications for SNCA Gene

  1. Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms. (PMID: 19139307) Ibáñez P … French Parkinson's Disease Genetics Study Group (Archives of neurology 2009) 3 22 44 58
  2. Genetic association studies of methamphetamine use disorders: A systematic review and synthesis. (PMID: 19219857) Bousman CA … Tsuang MT (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
  3. Study of association between alpha-synuclein gene polymorphism and methamphetamine psychosis/dependence. (PMID: 15542733) Kobayashi H … Sora I (Annals of the New York Academy of Sciences 2004) 3 22 44 58
  4. Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein. (PMID: 15498564) Choi W … Goedert M (FEBS letters 2004) 3 4 22 58
  5. Lipid rafts mediate the synaptic localization of alpha-synuclein. (PMID: 15282274) Fortin DL … Edwards RH (The Journal of neuroscience : the official journal of the Society for Neuroscience 2004) 3 4 22 58

Products for SNCA Gene

  • Addgene plasmids for SNCA

Sources for SNCA Gene

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