Ontology highlight
ABSTRACT:
SUBMITTER: Valnot I
PROVIDER: S-EPMC1288552 | biostudies-literature | 2000 Nov
REPOSITORIES: biostudies-literature
Valnot I I Osmond S S Gigarel N N Mehaye B B Amiel J J Cormier-Daire V V Munnich A A Bonnefont J P JP Rustin P P Rötig A A
American journal of human genetics 20000928 5
Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have mapped the disease locus to chromosome 17p13.1, in a region encompassing two candidate genes involved in COX assembly-namely, SCO1 and COX10. Mutation screening revealed compound heterozygosity for SCO1 g ...[more]