MMEL1 explained

Membrane metallo-endopeptidase-like 1 is a protein that in humans is encoded by the MMEL1 gene.^[1]

Function

The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart.

Further reading

• Whyteside AR, Turner AJ . Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences . FEBS Letters . 582 . 16 . 2382–6 . July 2008 . 18539150 . 10.1016/j.febslet.2008.05.046 . free .
• Danoy P, Wei M, Johanna H, Jiang L, He D, Sun L, Zeng X, Visscher PM, Brown MA, Xu H . Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population . Annals of the Rheumatic Diseases . 70 . 10 . 1793–7 . October 2011 . 21784728 . 10.1136/ard.2010.144576 . 7394115 .
• Natunen T, Helisalmi S, Vepsäläinen S, Sarajärvi T, Antikainen L, Mäkinen P, Herukka SK, Koivisto AM, Haapasalo A, Soininen H, Hiltunen M . Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease . Journal of Alzheimer's Disease . 28 . 3 . 553–9 . 2012 . 22027013 . 10.3233/JAD-2011-111109 .
• Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, Lu Y, Chen W, Juran BD, Coltescu C, Mason AL, Milkiewicz P, Myers RP, Odin JA, Luketic VA, Speiciene D, Vincent C, Levy C, Gregersen PK, Zhang J, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA . Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis . Nature Genetics . 42 . 8 . 655–7 . August 2010 . 20639879 . 2929126 . 10.1038/ng.631 .
• Carpentier M, Guillemette C, Bailey JL, Boileau G, Jeannotte L, DesGroseillers L, Charron J . Reduced fertility in male mice deficient in the zinc metallopeptidase NL1 . Molecular and Cellular Biology . 24 . 10 . 4428–37 . May 2004 . 15121861 . 400486 . 10.1128/MCB.24.10.4428-4437.2004 .
• Huang JY, Hafez DM, James BD, Bennett DA, Marr RA . Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease . Journal of Alzheimer's Disease . 28 . 2 . 433–41 . 2012 . 22008264 . 3320721 . 10.3233/JAD-2011-111307 .
• Hu Z, Xia Y, Guo X, Dai J, Li H, Hu H, Jiang Y, Lu F, Wu Y, Yang X, Li H, Yao B, Lu C, Xiong C, Li Z, Gui Y, Liu J, Zhou Z, Shen H, Wang X, Sha J . A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia . Nature Genetics . 44 . 2 . 183–6 . December 2011 . 22197933 . 10.1038/ng.1040 . 5325489 .

Notes and References

1. Web site: Entrez Gene: Membrane metallo-endopeptidase-like 1 .