Basic information of ST8SIA1 :
| Official Symbol of Gene | ST8SIA1 |
| Species | Homo sapiens |
| Entrez Gene ID | 6489 |
| Official Full Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 |
| Also known as | GD3S; SIAT8; SIAT8A; SIAT8-A; ST8SiaI |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111728 MIM:601123; AllianceGenome:HGNC:10869 |
| Map Location | 12p12.1 |
| Variation Type | SNP |
| refSNP ID | rs2041906 |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Australian |
| Sample Size | 274 family trios |
Literature information of multiple sclerosis :
| Pubmed ID | 18612409 |
| Year | 2008 |
| Title | Variants of ST8SIA1 are associated with risk of developing multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Australia validated the association of ST8SIA1 in individuals with MS, showing transmission disequilibrium of the paternal alleles for three additional SNPs, namely rs704219, rs2041906, and rs1558793, with p = 0.001, p = 0.01 and p = 0.01 respectively. |
| Mechanism/Pathway | ST8SIA1 encodes GD3 synthase, a ubiquitously expressed type II transmembrane protein that generates GD3 ganglioside (GD3G) by catalyzing the addition of a second sialic acid residue to its immediate precursor GM3. |
