Aliases for SBDS Gene
External Ids for SBDS Gene
This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008]
GeneCards Summary for SBDS Gene
SBDS (Shwachman-Bodian-Diamond Syndrome) is a Protein Coding gene. Diseases associated with SBDS include shwachman-bodian-diamond syndrome and inherited bone marrow failure syndromes. Among its related pathways are Carbon metabolism and Metabolism. GO annotations related to this gene include microtubule binding and ribosome binding.
UniProtKB/Swiss-Prot for SBDS Gene
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.