MME membrane metalloendopeptidase
Gene ID: 4311, updated on 23-Jul-2024Gene type: protein coding
Also known as: NEP; SFE; CD10; CALLA; CMT2T; SCA43
- See all available tests in GTR for this gene
- Go to complete Gene record for MME
- Go to Variation Viewer for MME variants
Summary
The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease axonal type 2T | not available |
| Charcot-Marie-Tooth disease type 2 MedGen: C0270914GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview | not available |
| Spinocerebellar ataxia 43 | not available |
Genomic context
- Location:
- 3q25.2
- Sequence:
- Chromosome: 3; NC_000003.12 (155024202..155183729)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MME variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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