ACE Antibody – Mouse Monoclonal

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]

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.

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. Isoform Testis-specific only binds 1 zinc ion per subunit.Binds 3 chloride ions per subunit.

Enzyme regulation: Strongly activated by chloride. Specifically inhibited by lisinopril, captopril and enalaprilat.

Subcellular location: Angiotensin-converting enzyme, soluble form: Secreted. Cell membrane; Single-pass type I membrane protein.

Tissue specificity: Ubiquitously expressed, with highest levels in lung, kidney, heart, gastrointestinal system and prostate. Isoform Testis-specific is expressed in spermatocytes and adult testis. Ref.15 Ref.16 Ref.19 Ref.22

Induction: Up-regulated in failing heart. Ref.21 Ref.22

Post-translational modification: Phosphorylated by CK2 on Ser-1299; which allows membrane retention. Ref.18

Involvement in disease: Ischemic stroke (ISCHSTR) [MIM:601367]: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.33Renal tubular dysgenesis (RTD) [MIM:267430]: 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).Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.35Microvascular complications of diabetes 3 (MVCD3) [MIM:612624]: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.Intracerebral hemorrhage (ICH) [MIM:614519]: 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.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.34

Miscellaneous: Inhibitors of ACE are commonly used to treat hypertension and some types of renal and cardiac dysfunction.The glycosidase activity probably uses different active site residues than the metalloprotease activity.

Sequence similarities: Belongs to the peptidase M2 family.

Biophysicochemical propertiesKinetic parameters:KM=2.51 mM for Hip-His-Leu Ref.17 Ref.20

Sequence caution: The sequence BAD92208.1 differs from that shown. Reason: Erroneous initiation.