MEP1B
Description
The MEP1B (meprin A subunit beta) is a protein-coding gene located on chromosome 18.
Meprin A subunit beta is a protein that in humans is encoded by the MEP1B gene. Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes and in leukocytes and certain cancer cells. Mature meprins are oligomers of evolutionarily related, separately encoded alpha and/or beta subunits. Homooligomers of meprin-alpha (MEP1A; MIM 600388) are secreted; oligomers containing meprin-beta are associated with the plasma membrane. Substrates include bioactive peptides and extracellular matrix proteins.
MEP1B is a membrane metallopeptidase that cleaves numerous membrane-bound proteins. It displays a strong preference for acidic amino acids at the P1' position. Its known substrates include growth factors like FGF19 and VGFA, pro-inflammatory cytokines such as IL1B and IL18, extracellular matrix components like procollagen I and III, and cell adhesion molecules like E-cadherin. The presence of various pro-inflammatory cytokines among its substrates suggests a role for MEP1B in inflammation. Furthermore, its ability to degrade extracellular matrix components implicates MEP1B in tissue remodeling.
MEP1B is also known as -.
Associated Diseases
- schizophrenia 15
- Phelan-McDermid syndrome
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- karyomegalic interstitial nephritis
- xanthinuria type II
- autosomal dominant progressive nephropathy with hypertension
- Potocki-Lupski syndrome
- familial juvenile hyperuricemic nephropathy type 1
- Dent disease
- hereditary renal hypouricemia
- adenine phosphoribosyltransferase deficiency
- atypical hemolytic-uremic syndrome with C3 anomaly
