DISEASES

Disease-gene associations mined from literature

Literature associating PUS1 and lactic acidosis

PUS1 [ENSP00000365837]

tRNA pseudouridine synthase A; 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 through pseudouridylation of SRA1 RNA; Belongs to the tRNA pseudouridine synthase TruA family.

Synonyms:  PUS1,  PUS1p,  hPUS1,  E5KMT5,  E5KMT6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM