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An angiotensin I-converting enzyme mutation (Y465D) causes a dramatic increase in blood ACE via accelerated ACE shedding.

PLoS ONE. 2011;

DanilovSergei M，GordonKerry，NesterovitchAndrew B，LünsdorfHeinrich，ChenZhenlong，CastellonMaricela，PopovaIsolda A，KalininSergey，MendoncaEmma，PetukhovPavel A，SchwartzDavid E，MinshallRichard D，SturrockEdwa

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Codon Optimization	… cDNAs encoding mutant ACE protein were created by GenScript (Piscataway, NJ) by mutation of the GAT codon (Tyr) at position 465 (mature somatic ACE numbering [17]) to codon TAT that encodes an Asp in the expression vector …	Get A Quote

摘要

Angiotensin I-converting enzyme (ACE) metabolizes a range of peptidic substrates and plays a key role in blood pressure regulation and vascular remodeling. Thus， elevated ACE levels may be associated with an increased risk for different cardiovascular or respiratory diseases. Previously， a striking familial elevation in blood ACE was explained by mutations in the ACE juxtamembrane region that enhanced the cleavage-secretion process. Recently， we found a family whose affected members had a 6-fold increase in blood ACE and a Tyr465Asp (Y465D) substitution， distal to the stalk region， in the N domain of ACE.