6CER

Human pyruvate dehydrogenase complex E1 component V138M mutation

Summary for 6CER

• Entry DOI: 10.2210/pdb6cer/pdb
• Related: 1NI4
• Descriptor: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, Pyruvate dehydrogenase E1 component subunit beta, mitochondrial, THIAMINE DIPHOSPHATE, ... (5 entities in total)
• Functional Keywords: pyruvate dehydrogenase deficiency, mutation, thiamin diphosphate, metabolism, oxidoreductase
• Biological source: Homo sapiens (Human); More
• Total number of polymer chains: 8
• Total formula weight: 309077.83

Authors

Whitley, M.J.,Arjunan, P.,Furey, W. (deposition date: 2018-02-12, release date: 2018-07-11, Last modification date: 2023-10-04)

• Primary citation: Whitley, M.J.,Arjunan, P.,Nemeria, N.S.,Korotchkina, L.G.,Park, Y.H.,Patel, M.S.,Jordan, F.,Furey, W.; Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the alpha V138M variant of human pyruvate dehydrogenase.; J. Biol. Chem., 293:13204-13213, 2018; PubMed: 29970614; DOI: 10.1074/jbc.RA118.003996

Experimental method

X-RAY DIFFRACTION (2.69 Å)