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.
Whyteside AR, Turner AJ (July 2008). "Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences". FEBS Letters. 582 (16): 2382–6. doi:10.1016/j.febslet.2008.05.046. PMID18539150.
Danoy P, Wei M, Johanna H, Jiang L, He D, Sun L, Zeng X, Visscher PM, Brown MA, Xu H (October 2011). "Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population". Annals of the Rheumatic Diseases. 70 (10): 1793–7. doi:10.1136/ard.2010.144576. PMID21784728.
Natunen T, Helisalmi S, Vepsäläinen S, Sarajärvi T, Antikainen L, Mäkinen P, Herukka SK, Koivisto AM, Haapasalo A, Soininen H, Hiltunen M (2012). "Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease". Journal of Alzheimer's Disease. 28 (3): 553–9. doi:10.3233/JAD-2011-111109. PMID22027013.
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 (December 2011). "A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia". Nature Genetics. 44 (2): 183–6. doi:10.1038/ng.1040. PMID22197933.