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: 11 E1|11 68.84 cM
Cellular Component: basal plasma membrane; brush border membrane; cytoplasm; endosome; external side of plasma membrane; extracellular exosome; extracellular region; extracellular space; integral component of membrane; lysosome; membrane; plasma membrane; vesicle
Molecular Function: actin binding; bradykinin receptor binding; carboxypeptidase activity; chloride ion binding; drug binding; endopeptidase activity; exopeptidase activity; hydrolase activity; metal ion binding; metallopeptidase activity; mitogen-activated protein kinase binding; mitogen-activated protein kinase kinase binding; peptidase activity; peptidyl-dipeptidase activity; protein binding; tripeptidyl-peptidase activity; zinc ion binding
Biological Process: alveolus development; arachidonic acid secretion; beta-amyloid metabolic process; bradykinin catabolic process; cell proliferation in bone marrow; eating behavior; embryonic development ending in birth or egg hatching; heart contraction; hormone catabolic process; kidney development; negative regulation of blood vessel diameter; negative regulation of calcium ion import; negative regulation of gene expression; negative regulation of glucose import; negative regulation of protein binding; neutrophil mediated immunity; organ regeneration; peptide catabolic process; peptide metabolic process; positive regulation of apoptosis; positive regulation of blood pressure; positive regulation of inflammatory response; positive regulation of neurogenesis; positive regulation of peptidyl-cysteine S-nitrosylation; positive regulation of peptidyl-tyrosine autophosphorylation; positive regulation of protein binding; positive regulation of systemic arterial blood pressure; posttranscriptional regulation of gene expression; proteolysis; regulation of angiotensin metabolic process; regulation of blood pressure; regulation of hematopoietic stem cell proliferation; regulation of smooth muscle cell migration; regulation of systemic arterial blood pressure by renin-angiotensin; response to lipopolysaccharide; sensory perception of pain; spermatogenesis; vasoconstriction
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