ACE: 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. Genetic variations in ACE may be a cause of susceptibility to ischemic stroke (ISCHSTR); 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. Defects in ACE are a cause of renal tubular dysgenesis (RTD). 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). Genetic variations in ACE are associated with susceptibility to microvascular complications of diabetes type 3 (MVCD3). These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new- onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Defects in ACE are a cause of susceptibility to intracerebral hemorrhage (ICH). A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Belongs to the peptidase M2 family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 3.4.15.1; Membrane protein, integral; Protease
Chromosomal Location of Human Ortholog: 17q23.3
Cellular Component: endosome; external side of plasma membrane; extracellular exosome; extracellular region; extracellular space; integral component of membrane; lysosome; plasma membrane
Molecular Function: bradykinin receptor binding; carboxypeptidase activity; chloride ion binding; drug binding; endopeptidase activity; exopeptidase activity; metallopeptidase activity; mitogen-activated protein kinase binding; mitogen-activated protein kinase kinase binding; peptidyl-dipeptidase activity; tripeptidyl-peptidase activity; zinc ion binding
Biological Process: angiotensin catabolic process in blood; angiotensin maturation; antigen processing and presentation of peptide antigen via MHC class I; arachidonic acid secretion; beta-amyloid metabolic process; blood vessel remodeling; cell proliferation in bone marrow; heart contraction; hormone catabolic process; kidney development; mononuclear cell proliferation; neutrophil mediated immunity; peptide catabolic process; positive regulation of peptidyl-cysteine S-nitrosylation; positive regulation of peptidyl-tyrosine autophosphorylation; proteolysis; regulation of angiotensin metabolic process; regulation of blood pressure; regulation of blood vessel diameter; regulation of hematopoietic stem cell proliferation; regulation of renal output by angiotensin; regulation of smooth muscle cell migration; regulation of systemic arterial blood pressure by renin-angiotensin; regulation of vasoconstriction; spermatogenesis
Disease: Alzheimer Disease; Hemorrhage, Intracerebral, Susceptibility To; Microvascular Complications Of Diabetes, Susceptibility To, 3; Renal Tubular Dysgenesis
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