PUS1 gene

pseudouridylate synthase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]

From UniProt:

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.

From NCBI Gene:

  • Myopathy, lactic acidosis, and sideroblastic anemia 1

From UniProt:

Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1): A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. [MIM:600462]

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33

Molecular Location: base pairs 131,929,200 to 131,944,040 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.33, which is the long (q) arm of chromosome 12 at position 24.33
  • MLASA1