zinc metallopeptidase STE24
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L ZMPSTE24 gene provides instructions for making a protein that acts as a protease, which is an enzyme that cuts (cleaves) other proteins. The ZMPSTE24 protein cuts an immature version of the lamin A protein (prelamin A) at a particular location; this cleavage is an essential step in the maturation of lamin A.
Normal function
L ZMPSTE24 gene provides instructions for making a protein that acts as a protease, which is an enzyme that cuts (cleaves) other proteins. The ZMPSTE24 protein cuts an immature version of the lamin A protein (prelamin A) at a particular location; this cleavage is an essential step in the maturation of lamin A.
Mature lamin A is a component of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity of certain genes.
Conditions referring to this gene or chromosome
Altri nomi
CAAX prenyl protease 1 homolog
FACE-1
FACE1
FACE1_HUMAN
farnesylated proteins-converting enzyme 1
HGPS
prenyl protein-specific endoprotease 1
PRO1
STE24
Ste24p
zinc metalloproteinase Ste24 homolog
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Ulteriori letture e riferimenti
- zinc metallopeptidase STE24; MedlinePlus, National Library of Medicine.
- Ahmad Z, Zackai E, Medne L, Garg A. Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. Am J Med Genet A. 2010 Nov;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.
- Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity. Hum Mol Genet. 2012 Sep 15;21(18):4084-93. doi: 10.1093/hmg/dds233. Epub 2012 Jun 19.
- Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadinanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Levy N, Bonne G. Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.
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