Summary

Performance

Immunogen

Application

Background

This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010],catalytic activity:Release of a C-terminal dipeptide, oligopeptide-|-Xaa-Yaa, when Xaa is not Pro, and Yaa is neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase in vasoconstrictor activity, but no action on angiotensin II.,cofactor:Binds 2 zinc ions per subunit. The Testis-specific isoform only binds 1 zinc ion per subunit.,cofactor:Binds 3 chloride ions per subunit.,disease:Defects in ACE are a cause of renal tubular dysgenesis (RTD) [MIM:267430]. RTD is an autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype).,disease:Genetic variations in ACE could influence susceptibility to diabetic nephropathy [MIM:612624]; also called susceptibility to microvascular complications of diabetes type 3 (MVCD3) or susceptibility to diabetic end-stage renal disease (ESRD). Diabetic nephropathy is a kidney disease and resultant kidney function impairment due to the long standing effects of diabetes on the microvasculature (glomerulus) of the kidney. Features include increased urine protein and declining kidney function.,disease:Genetic variations in ACE may be a cause of susceptibility to ischemic stroke [MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.,enzyme regulation:Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat.,function:Converts angiotensin I to angiotensin II by release of the terminal His-Leu, this results in an increase of the vasoconstrictor activity of angiotensin. Also able to inactivate bradykinin, a potent vasodilator. Has also a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety.,induction:Up-regulated in failing heart.,miscellaneous:Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac dysfunction.,miscellaneous:The glycosidase activity probably uses different active site residues than the metalloprotease activity.,online information:The Singapore human mutation and polymorphism database,PTM:Phosphorylated by CK2 on Ser-1299; which allows membrane retention.,similarity:Belongs to the peptidase M2 family.,tissue specificity:Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. The testis-specific isoforn is expressed in spermatocytes, adult testis.,

Research Area

Renin-angiotensin system;Hypertrophic cardiomyopathy (HCM);