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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) | ||||
TAZ1 | Lyso-phosphatidylcholine acyltransferase; required for normal phospholipid content of mitochondrial membranes; major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid cardiolipin; mutations in human ortholog tafazzin (TAZ) cause Barth syndrome, a rare X-linked disease characterized by skeletal and cardiomyopathy and bouts of cyclic neutropenia; a specific splice variant of human TAZ can complement yeast null mutant. (381 aa) |