Biology:PUS1

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

tRNA pseudouridine synthase A is an enzyme that in humans is encoded by the PUS1 gene.[1][2]

PUS1 converts uridine into pseudouridine after the nucleotide has been incorporated into RNA. Pseudouridine may have a functional role in tRNAs and may assist in the peptidyl transfer reaction of rRNAs.[supplied by OMIM].[2] The mutations in PUS1 gene has been linked to mitochondrial myopathy and sideroblastic anemia.[3][4]

See also

References

Further reading