Gene: MMEL1

Alternate names for this Gene: MMEL2|NEP2|NEPII|NL1|NL2|SEP

Gene Summary: The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: membrane metalloendopeptidase like 1

Type of Gene: protein-coding

rs3748816 in MMEL1 gene and Asthma PMID 21150878 2011 Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.

rs10752747 in MMEL1 gene and Autoimmune Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs3748816 in MMEL1 gene and Celiac Disease PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.

PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.

PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

rs3748816 in MMEL1 gene and Cholangitis, Sclerosing PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.

rs3890745 in MMEL1 gene and Diffuse Large B-Cell Lymphoma PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

rs2843403 in MMEL1 gene and Graves Disease PMID 22922229 2012 Seven newly identified loci for autoimmune thyroid disease.

rs10752747 in MMEL1 gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs3748816 in MMEL1 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

PMID 21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs3748816 in MMEL1 gene and Primary sclerosing cholangitis PMID 22521342 2012 Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci.

PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

rs187786174 in MMEL1 gene and Rheumatoid Arthritis PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

PMID 24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

PMID 31407831 2019 Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

PMID 18794853 2008 Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.