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Gene Symbol SBDS
Synonyms CGI-97 | SDO1 | SDS | SWDS
Gene Description SBDS, SBDS ribosome maturation factor, plays a role in the assembly, maturation, and translational activation of ribosomes via interaction with elongation factor-like 1 and release of eukaryotic initiation factor 6 from 60S ribosomal subunits (PMID: 21536732, PMID: 17353896, PMID: 21803848, PMID: 23115272), and potentially embryonic development (PMID: 16914746, PMID: 22872088). Mutations in SBDS have been identified in Shwachman-Diamond syndrome (PMID: 12496757), and decreased expression of SBDS has been observed in myelodysplastic syndrome (PMID: 22371183).
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