MEP1B

Chr 18

meprin A subunit beta

NCBI Gene: 4225 ENSG00000141434 UniProt: Q16820

MEP1B encodes meprin beta, a membrane-bound zinc metallopeptidase that cleaves diverse substrates including pro-inflammatory cytokines, extracellular matrix components, and amyloid precursor protein. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia in early childhood. The gene shows low constraint against loss-of-function variants (LOEUF 1.279), consistent with recessive inheritance requiring biallelic mutations for disease.

ResearchSummary from RefSeq, UniProt

Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal 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 intestinal inflammation. Mature meprins are oligomers of evolutionarily 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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.28

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)