Zinc metallopeptidase STE24: the ZMPSTE24 gene provides instructions for making a protein that acts as a protease.
genes
References
Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia dueto compound heterozygous mutations in ZMPSTE24. Am J Med Genet A. 2010Nov;152A(11):2703-10. doi: 10.1002/ajmg.a.33664.
Barrowman J, Michaelis S. ZMPSTE24, an integral membrane zinc metalloprotease with a connection to progeroid disorders. Biol Chem. 2009 Aug;390(8):761-73. doi:10.1515/BC.2009.080. Review.
Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. HumanZMPSTE24 disease mutations: residual proteolytic activity correlates with diseaseseverity. Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: 10.1093/hmg/dds233.
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, DeSandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B,Richard P, Barois A, Lévy N, Bonne G. Type B mandibuloacral dysplasia withcongenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J HumGenet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256.
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