C22orf4 antibody, HSC79E021 antibody, BC023106 antibody, D15Ertd781e antibody, RGD1306588 antibody, TBC1 domain family member 22A antibody, TBC1 domain family, member 22a antibody, TBC1D22A antibody, Tbc1d22a antibody
Background
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.Synonyms: C22orf4, TBC1 domain family member 22A