Basic information of IQGAP1 :
| Official Symbol of Gene | IQGAP1 |
| Species | Homo sapiens |
| Entrez Gene ID | 8826 |
| Official Full Name | IQ motif containing GTPase activating protein 1 |
| Also known as | SAR1; p195; HUMORFA01 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000140575 MIM:603379; AllianceGenome:HGNC:6110 |
| Map Location | 15q26.1 |
| Variation Type | SNP |
| refSNP ID | rs11609 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | qPCR,online tools SNAP |
| Disease | MS |
| Disease subtype | N/A |
| Population | Norwegian |
| Sample Size | 140 MS patients/46 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 27080863 |
| Year | 2016 |
| Title | Allelic imbalance of multiple sclerosis susceptibility genes IKZF3 and IQGAP1 in human peripheral blood |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | The transcript of the haplotype containing the MS risk allele at rs11609 in IQGAP1 was higher in the majority of MS samples.Consistent allelic imbalance is observed for rs11609 in IQGAP1.The studied SNP IQGAP1 is located in a cis-regulatory element, or that these SNPs mark a functional cis-regulatory element that impacts the per-allele transcript abundance in whole blood, independent of disease status. Given this observation, a relative higher expression of IQGAP1 for carriers of the minor allele might contribute to an increase in MS susceptibility. |
| Mechanism/Pathway | N/A |
