Ontology highlight
ABSTRACT:
SUBMITTER: Estevez M
PROVIDER: S-EPMC2373640 | biostudies-literature | 2002 Jun
REPOSITORIES: biostudies-literature
Estévez Marcel M Skarda Jeremy J Spencer Josh J Banaszak Leonard L Weaver Todd M TM
Protein science : a publication of the Protein Society 20020601 6
Fumarase catalyzes the reversible conversion of fumarate to S- malate during the operation of the ubiquitous Kreb's cycle. Previous studies have shown that the active site includes side chains from three of the four subunits within the tetrameric enzyme. We used a clinically observed human mutation to narrow our search for potential catalytic groups within the fumarase active site. Offspring homozygous for the missense mutation, a G-955-C transversion in the fumarase gene, results in the substit ...[more]