MMEL1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

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

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. [provided by RefSeq, Jul 2008].

Further reading

• Whyteside, A. R.; Turner, A. J. (2008). "Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences". FEBS Letters. 582 (16): 2382–2386. doi:10.1016/j.febslet.2008.05.046. PMID 18539150.
• Danoy, P.; Wei, M.; Johanna, H.; Jiang, L.; He, D.; Sun, L.; Zeng, X.; Visscher, P. M.; Brown, M. A.; Xu, H. (2011). "Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population". Annals of the Rheumatic Diseases. 70 (10): 1793–1797. doi:10.1136/ard.2010.144576. PMID 21784728.
• Wieczorek, S.; Holle, J. U.; Müller, S.; Fricke, H.; Gross, W. L.; Epplen, J. R. T. (2010). "A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis". Journal of Molecular Medicine. 88 (4): 413–421. doi:10.1007/s00109-009-0580-y. PMID 20049410.
• Natunen, T.; Helisalmi, S.; Vepsäläinen, S.; Sarajärvi, T.; Antikainen, L.; Mäkinen, P.; Herukka, S. K.; Koivisto, A. M.; 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 : JAD. 28 (3): 553–559. doi:10.3233/JAD-2011-111109. PMID 22027013.
• Anderson, C. A.; Boucher, G.; Lees, C. W.; Franke, A.; d'Amato, M.; Taylor, K. D.; Lee, J. C.; Goyette, P.; Imielinski, M.; Latiano, A.; Lagacé, C.; Scott, R.; Amininejad, L.; Bumpstead, S.; Baidoo, L.; Baldassano, R. N.; Barclay, M.; Bayless, T. M.; Brand, S.; Büning, C.; Colombel, J. F. D. R.; Denson, L. A.; De Vos, M.; Dubinsky, M.; Edwards, C.; Ellinghaus, D.; Fehrmann, R. S. N.; Floyd, J. A. B.; Florin, T.; Franchimont, D. (2011). "Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47". Nature Genetics. 43 (3): 246–252. doi:10.1038/ng.764. PMC 3084597. PMID 21297633.
• Hirschfield, G. M.; Liu, X.; Han, Y.; Gorlov, I. P.; Lu, Y.; Xu, C.; Lu, Y.; Chen, W.; Juran, B. D.; Coltescu, C.; Mason, A. L.; Milkiewicz, P.; Myers, R. P.; Odin, J. A.; Luketic, V. A.; Speiciene, D.; Vincent, C.; Levy, C.; Gregersen, P. K.; Zhang, J.; Heathcote, E. J.; Lazaridis, K. N.; Amos, C. I.; Siminovitch, K. A. (2010). "Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis". Nature Genetics. 42 (8): 655–657. doi:10.1038/ng.631. PMC 2929126. PMID 20639879.
• Carpentier, M.; Guillemette, C.; Bailey, J. L.; Boileau, G.; Jeannotte, L.; Desgroseillers, L.; Charron, J. (2004). "Reduced fertility in male mice deficient in the zinc metallopeptidase NL1". Molecular and Cellular Biology. 24 (10): 4428–4437. doi:10.1128/MCB.24.10.4428-4437.2004. PMC 400486. PMID 15121861.
• Huang, J. Y.; Hafez, D. M.; James, B. D.; Bennett, D. A.; Marr, R. A. (2012). "Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease". Journal of Alzheimer's disease : JAD. 28 (2): 433–441. doi:10.3233/JAD-2011-111307. PMC 3320721. PMID 22008264.
• 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. (2011). "A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia". Nature Genetics. 44 (2): 183–186. doi:10.1038/ng.1040. PMID 22197933.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.