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Basic information of SYN3 :

Official Symbol of Gene SYN3
Species Homo sapiens
Entrez Gene ID 8224
Official Full Name synapsin III
Also known as N/A
Gene Type protein coding
dbXrefs Ensembl:ENSG00000185666 MIM:602705; AllianceGenome:HGNC:11496
Map Location 22q12.3
Variation Type haplotype
refSNP ID A196 haplotype

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype RRMS/RPMS/PPMS
Population Italian
Sample Size 191 MS patients/270 HCs

Literature information of multiple sclerosis :

Pubmed ID 14991350
Year 2004
Title Association between Synapsin III gene promoter polymorphisms and multiple sclerosis

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result The distribution of haplotypes reported a significant difference between cases and controls with the A196 haplotype seeming to confer a significant protection against MS.
Mechanism/Pathway Synapsins are a family of abundant neuron-specific phosphoproteins, that have been recognised as playing crucial roles in synaptogenesis and neuronal plasticity, including regulation of synapse development, modulation of neurotransmitter release and formation of nerve terminals.