The K01G5.5 gene encodes an ortholog of human DYSKERIN (DKC1; OMIM:300126), which when mutated leads to X-linked dyskeratosis congenita (OMIM:305000); the K01G5.5 protein is predicted to be mitochondrial with 68% accuracy.
Predicted to enable pseudouridine synthase activity. Predicted to be involved in box H/ACA RNA 3'-end processing and pseudouridine synthesis. Predicted to be located in nucleolus. Predicted to be part of box H/ACA snoRNP complex. Human ortholog(s) of this gene implicated in X-linked dyskeratosis congenita and aplastic anemia. Is an ortholog of human DKC1 (dyskerin pseudouridine synthase 1).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.