Disease-gene associations mined from literature

Literature associating PUS10 and thiamine-responsive megaloblastic anemia syndrome

PUS10 [ENSP00000326003]

Putative tRNA pseudouridine synthase Pus10; Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death.

Synonyms:  PUS10,  PUS10p,  hPUS10,  A8MUL8,  C9JNL8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM