| umls-concept:C2984140 | skos:definition | NCI: Human ACE wild-type allele is located in the vicinity of 17q23.3 and is approximately 45 kb in length. This allele, which encodes angiotensin-converting enzyme protein, is involved in both hydrolysis and the regulation of vasoconstriction. Mutation of the gene is associated with renal tubular dysgenesis and susceptibility to ischemic stroke, microvascular complications of diabetes type 3 and diabetic end-stage renal disease. | lld:umls |
