Ontology highlight
ABSTRACT:
SUBMITTER: Froese DS
PROVIDER: S-EPMC2995210 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Expert reviews in molecular medicine 20101129
Vitamin B12 (cobalamin, Cbl) is an essential nutrient in human metabolism. Genetic diseases of vitamin B12 utilisation constitute an important fraction of inherited newborn disease. Functionally, B12 is the cofactor for methionine synthase and methylmalonyl CoA mutase. To function as a cofactor, B12 must be metabolised through a complex pathway that modifies its structure and takes it through subcellular compartments of the cell. Through the study of inherited disorders of vitamin B12 utilisatio ...[more]