Ontology highlight
ABSTRACT:
INSTRUMENT(S): TripleTOF 5600
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Dave Schriemer
LAB HEAD: David Christopher Schriemer
PROVIDER: PXD018007 | Pride | 2020-12-11
REPOSITORIES: Pride
Nature communications 20201204 1
The KEOPS complex, which is conserved across archaea and eukaryotes, is composed of four core subunits; Pcc1, Kae1, Bud32 and Cgi121. KEOPS is crucial for the fitness of all organisms examined. In humans, pathogenic mutations in KEOPS genes lead to Galloway-Mowat syndrome, an autosomal-recessive disease causing childhood lethality. Kae1 catalyzes the universal and essential tRNA modification N<sup>6</sup>-threonylcarbamoyl adenosine, but the precise roles of all other KEOPS subunits remain an en ...[more]