Basic information of HPRT1 :
| Official Symbol of Gene | HPRT1 |
| Species | Homo sapiens |
| Entrez Gene ID | 3251 |
| Official Full Name | hypoxanthine phosphoribosyltransferase 1 |
| Also known as | HPRT; HGPRT |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000165704 MIM:308000; AllianceGenome:HGNC:5157 |
| Map Location | Xq26.2-q26.3 |
| Variation Type | mutant frequency |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | T cells |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS,SPMS |
| Population | N/A |
| Sample Size | N/A |
Literature information of multiple sclerosis :
| Pubmed ID | 8309581 |
| Year | 1994 |
| Title | Longitudinal study of frequency of HPRT mutant T cells in patients with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | In the chronic progressive group of MS, the mF increased over a 3-year period and appeared to correlate with the clinical worsening of the disease. |
| Mechanism/Pathway | The reason for the discrepancy in the mF between the different clinical disease categories might relate to underlying differences in the tempo and nature of the autoimmune processes that sustain the disease. |
