anticorps C22orf4, anticorps HSC79E021, anticorps BC023106, anticorps D15Ertd781e, anticorps RGD1306588, anticorps TBC1 domain family member 22A, anticorps TBC1 domain family, member 22a, anticorps TBC1D22A, anticorps Tbc1d22a
Sujet
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