MME membrane metalloendopeptidase

Gene ID: 4311, updated on 2-Nov-2024
Gene type: protein coding
Also known as: NEP; SFE; CD10; CALLA; CMT2T; SCA43

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 MedGen: C4015635OMIM: 617017GeneReviews: Not available	See labs
Charcot-Marie-Tooth disease type 2 MedGen: C0270914GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview	See labs
Spinocerebellar ataxia 43 MedGen: C4310763OMIM: 617018GeneReviews: Not available	See labs

Genomic context

Location:: 3q25.2

Sequence:: Chromosome: 3; NC_000003.12 (155024202..155183729)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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