Ribosome maturation protein SBDS (SBDS)

Ribosome maturation protein SBDS is a highly conserved protein encoded by the *SBDS* gene, primarily involved in the late cytoplasmic maturation of the 60S large ribosomal subunit. It acts with the GTPase EFL1 to catalyze the removal of the anti-association factor eIF6 from nascent 60S subunits, enabling 80S ribosome assembly and active translation[1][2][3][4][5]. SBDS is essential for ribosome biogenesis, RNA metabolism, and maintaining proper protein synthesis. It is also implicated in cell division, cell movement, and cellular responses to stress, although these roles are less well-defined[1][4][5]. Mutations in SBDS cause Shwachman-Diamond syndrome, an autosomal recessive disorder characterized by bone marrow failure, pancreatic insufficiency, skeletal abnormalities, and an increased risk of acute myeloid leukemia and myelodysplastic syndromes[4][5]. There are currently no drugs that directly target SBDS, and the molecule functions as a ribosome biogenesis factor rather than a classic drug target such as a receptor or enzyme.

Other names

CGI-97SDO1SDSSWDSShwachman-Bodian-Diamond syndrome proteinFLJ10917ribosome assembly guanine nucleotide exchange factor