DISEASES

Disease-gene associations mined from literature

Literature associating PUS1 and Pearson syndrome

PUS1 [ENSP00000365837]

tRNA pseudouridine(38-40) synthase; Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity); Belongs to the tRNA pseudouridine synthase TruA family.

Synonyms:  PUS1,  PUS1p,  hPUS1,  A0A024RBS6,  E5KMT5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM