Article
Kinetic results for mutations of conserved residues H304 and R309 of human sulfite oxidase point to mechanistic complexities.
Metallomics : integrated biometal science - 1 Sept 2014
Davis Amanda C, Johnson-Winters Kayunta, Arnold Anna R, Tollin Gordon, Enemark John H
Abstract excerpt
Several point mutations in the gene of human sulfite oxidase (hSO) result in isolated sulfite oxidase deficiency, an inherited metabolic disorder. Three conserved residues (H304, R309, K322) are hydrogen bonded to the phosphate group of the molybdenum cofactor, and the R309H and K322R mutations are responsible for isolated sulfite oxidase deficiency. The kinetic effects of the K322R mutation have been previously...
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