| Full name: | tRNA pseudouridine(38/39) synthase |
|---|---|
| GI: | 199559784 |
| Orf: | FKSG32 |
| UniProt: | Q9BZE2 |
| Alpha Fold Predicted Structure: | AF-Q9BZE2-F1 |
| Enzyme type: | pseudouridine synthase |
MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSII
| Alpha Fold Pdb Files | AF-Q9BZE2-F1.pdb   |
| Alpha Fold Pdbx/mmCIF Files | AF-Q9BZE2-F1.cif   |
| DSSP Secondary Structures | Q9BZE2.dssp   |
| Description | Reaction | Disease Name |
|---|---|---|
| A significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred. | U:Y | Intellectual disability |
| Title | Authors | Journal | Details | ||
|---|---|---|---|---|---|
| A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. | Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS | Hum Genet. | [details] | 27055666 | 10.1007/s00439-016-1665-7 |