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SBDS
Shwachman-Bodian-Diamond syndrome
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation.
| Gene Name: | Shwachman-Bodian-Diamond syndrome |
| Synonyms: | SBDS, CGI-97, SWDS |
| Target Sequences: | NM_016038 NP_057122.2 Q9Y3A5 |
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