Aliases for SBDS Gene
External Ids for SBDS Gene
Previous GeneCards Identifiers for SBDS Gene
This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
GeneCards Summary for SBDS Gene
SBDS (SBDS, Ribosome Maturation Factor) is a Protein Coding gene. Diseases associated with SBDS include Shwachman-Diamond Syndrome and Aplastic Anemia. Among its related pathways are Ribosome biogenesis in eukaryotes. Gene Ontology (GO) annotations related to this gene include rRNA binding.
UniProtKB/Swiss-Prot for SBDS Gene
Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, 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.