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- Data Summary
Gene Report
Approved Symbol | SNCA |
---|---|
Previous Symbol | PARK1, PARK4 |
Symbol Alias | NACP, PD1, alpha-synuclein |
Approved Name | synuclein, alpha (non A4 component of amyloid precursor) |
Previous Name | Parkinson disease (autosomal dominant, Lewy body) 4 |
Location | 4q21.3-q22 |
Position | chr4:90645250-90759466, - |
External Links |
HGNC: 11138 Entrez Gene: 6622 Ensembl: ENSG00000145335 UCSC: uc003hsp.2 |
No. of Studies | 1 (significant: 0; non-significant: 1; trend: 0) |
Source | Literature-origin |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Hinney, A., 2011 | This GWAS in a small group of clinically ascertained young German patients with ADHD and population-based controls did not reveal genome-wide significant findings. Replication attempts in further German and international samples did also not lead to a P-value(s) below 5E-08. | Non-significant |
Literature-origin SNPs (count: 1)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs1430961 | Chr4:90552920(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
LD-proxies (count: 0)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 105)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa05010 | Alzheimer's disease | 40 | Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More... |
hsa05012 | Parkinson's disease | 22 | Parkinson's disease (PD) is a progressive neurodegenerative ...... Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (a ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. These pathogenic mutations are associated with disease through pathogenic pathways that may commonly lead proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondiral activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress. More... |
Region: chr4:90645250..90759466 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014