Basic information of MMEL1 :
| Official Symbol of Gene | MMEL1 |
| Species | Homo sapiens |
| Entrez Gene ID | 79258 |
| Official Full Name | membrane metalloendopeptidase like 1 |
| Also known as | NL1; NL2; SEP; NEP2; MMEL2; NEPII |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000142606 MIM:618104; AllianceGenome:HGNC:14668 |
| Map Location | 1p36.32 |
| Variation Type | SNP |
| refSNP ID | rs3748816 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | 975MS/1466Control |
Literature information of multiple sclerosis :
| Pubmed ID | 20574445 |
| Year | 2010 |
| Title | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in MMEL1 in multiple sclerosis susceptibilit |
| Mechanism/Pathway | Several single nucleotide polymorphism (SNP) genome-wide association studies (GWAS) have been completed in multiple sclerosis. |
