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SRB4 | Subunit of the RNA polymerase II mediator complex; associates with core polymerase subunits to form the RNA polymerase II holoenzyme; required for basal RNA polymerase II transcription; homozygosity of the human MED17 L371P mutation is associated with infantile cerebral and cerebellar atrophy with poor myelination. (687 aa) | ||||
ATP12 | Protein ATP12, mitochondrial; Assembly factor for F1 sector of mitochondrial F1F0 ATP synthase; conserved protein; required for assembly of alpha and beta subunits into F1 sector of mitochondrial F1F0 ATP synthase; human homolog ATPAF2 can complement yeast atp12 mutant; mutation of human homolog reduces active ATP synthase levels and is associated with the disorder ATPAF2 deficiency. (325 aa) |