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The Structural Genomics Consortium (SGC) is a public-private partnership that aims to determine the three-dimensional structures of human proteins of medical relevance and place them into the public domain without restriction. To date, the Oxford Metabolic Enzyme Group at SGC has deposited the structures of more than 140 human metabolic enzymes from diverse protein families such as oxidoreductases, hydrolases, oxygenases and fatty acid transferases. A subset of our target proteins are involved in the inherited disorders of carbohydrate, fatty acid, amino acid and vitamin metabolism. This article will provide an overview of the structural data gathered from our high-throughput efforts and the lessons learnt in the structure-function relationship of these enzymes, small molecule development and the molecular basis of disease mutations.

Original publication

DOI

10.1007/s10545-011-9296-6

Type

Journal article

Journal

Journal of inherited metabolic disease

Publication Date

06/2011

Volume

34

Pages

575 - 581

Addresses

Structural Genomics Consortium, University of Oxford, Oxford OX3 7DQ, UK.

Keywords

Humans, Disease, Cobamides, Enzymes, Signal Transduction, Protein Conformation, Metabolism, Mutation, Models, Molecular, Drug Discovery, High-Throughput Screening Assays