MMEL1 membrane metalloendopeptidase like 1
Gene ID: 79258, updated on 5-Mar-2024Gene type: protein coding
Also known as: NL1; NL2; SEP; NEP2; MMEL2; NEPII
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- Go to complete Gene record for MMEL1
- Go to Variation Viewer for MMEL1 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. GeneReviews: Not available | |
| Common variants at CD40 and other loci confer risk of rheumatoid arthritis. GeneReviews: Not available | |
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available | |
| Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. GeneReviews: Not available |
Genomic context
- Location:
- 1p36.32
- Sequence:
- Chromosome: 1; NC_000001.11 (2590639..2633016, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MMEL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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