MME
LOCUS ID4311
GENE_SYMBOLMME
GENE NAMEmembrane metallo-endopeptidase
SYNONYMNSNEP, SFE, CD10, CALLA
CHROMOSOME3
HOMOLOGENE ID5275
microRNAsNANA
GENE SUMMARY
This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This 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. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and ictivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is altertively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by altertive splicing. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Neuropathy1. These studies suggest that NEP plays a role in regulating nerve function in insulin-deficient diabetes and DIO.20849865