C22orf4 antikoerper, HSC79E021 antikoerper, BC023106 antikoerper, D15Ertd781e antikoerper, RGD1306588 antikoerper, TBC1 domain family member 22A antikoerper, TBC1 domain family, member 22a antikoerper, TBC1D22A antikoerper, Tbc1d22a antikoerper
Hintergrund
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