MEP1B
LOCUS ID4225
GENE_SYMBOLMEP1B
GENE NAMEmeprin A, beta
SYNONYMNSNA
CHROMOSOME18
HOMOLOGENE ID48382
microRNAsNANA
GENE SUMMARY
Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestil brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestil inflammation. Mature meprins are oligomers of evolutiorily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The present study demonstrates significant within-family association for SNPs in MEP1B gene with diabetic nephropathy. These could be explained by functional effects of one or more of these SNPs or by linkage disequilibrium with a nearby functional locus.15604066