Basic information of ENPEP :
| Official Symbol of Gene | ENPEP |
| Species | Homo sapiens |
| Entrez Gene ID | 2028 |
| Official Full Name | glutamyl aminopeptidase |
| Also known as | APA; CD249; gp160 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000138792 MIM:138297; AllianceGenome:HGNC:3355 |
| Map Location | 4q25 |
| Variation Type | intragenic restriction fragment length polymorphisms |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | PBMC |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS,PPMS,SPMS |
| Population | Australian |
| Sample Size | 208 |
Literature information of multiple sclerosis :
| Pubmed ID | 16076630 |
| Year | 2005 |
| Title | VARIATION IN THE VITAMIN D RECEPTOR GENE IS ASSOCIATED WITH MULTIPLE SCLEROSIS IN AN AUSTRALIAN POPULATION |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Our results support a role for the VDR gene increasing the risk of developing multiple sclerosis, particularly the progressive clinical subtypes of MS. |
| Mechanism/Pathway |
The Taq and Apa variants are in very strong and significant linkage disequilibrium (D0 |
