Full name: | tRNA pseudouridine(38/39) synthase |
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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 |
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A significant reduction in post-transcriptional pseudouridine modification of tRNA in patient cells has occurred. | U:Y | Intellectual disability |
Title | Authors | Journal | Details | ||
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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 |