Ontology highlight
ABSTRACT:
SUBMITTER: Vilardo E
PROVIDER: S-EPMC4446446 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Vilardo Elisa E Rossmanith Walter W
Nucleic acids research 20150429 10
SDR5C1 is an amino and fatty acid dehydrogenase/reductase, moonlighting as a component of human mitochondrial RNase P, which is the enzyme removing 5'-extensions of tRNAs, an early and crucial step in tRNA maturation. Moreover, a subcomplex of mitochondrial RNase P catalyzes the N(1)-methylation of purines at position 9, a modification found in most mitochondrial tRNAs and thought to stabilize their structure. Missense mutations in SDR5C1 cause a disease characterized by progressive neurodegener ...[more]