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Basic information of CTLA4 :

Official Symbol of Gene CTLA4
Species Homo sapiens
Entrez Gene ID 1493
Official Full Name cytotoxic T-lymphocyte associated protein 4
Also known as CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3
Gene Type protein coding
dbXrefs Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505
Map Location 2q33.2
Variation Type Polymorphism of the CTLA-4 gene
refSNP ID dinucleotide microsatelite (AT)

Sample information of multiple sclerosis:

Detected Sample venous blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population Polish MS patients
Sample Size n=102

Literature information of multiple sclerosis :

Pubmed ID 12894875
Year 2003
Title Lack of Association between an Exon 1 CTLA-4 Gene Polymorphism A(49)G and Multiple Sclerosis in a Polish Population of the Lower Silesia Region

Results of multiple sclerosis :

Risk Type N/A
Main Result Negative
Result Polymorphism of the CTLA-4 gene (chromosome 2q33) could thus have effects upon the immune response
Mechanism/Pathway the CTLA-4 exon 1 gene polymorphism at position 49, which results in amino acid exchange (Thr to Ala) in the leader sequence10