v5.1.0.3
Glycine data from LIS
Type | Family |
Description | The proteins in this entry are highly conserved in species ranging from archaea to vertebrates and plants [ ]. The family contains several Shwachman-Bodian-Diamond syndrome (SBDS, OMIM 260400) proteins from both mouse and humans. Shwachman-Diamond syndrome is an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, haematological dysfunction and skeletal abnormalities. It is characterised by bone marrow failure and leukemia predisposition []. SBDS is required for the assembly of mature ribosomes and ribosome biogenesis [].Homologue of SBDS from budding yeast is known as Sdo1, which is a guanine nucleotide exchange factor (GEF) involved in ribosome maturation. Together with the EF-2-like GTPase RIA1 (EfI1), it triggers the GTP-dependent release of TIF6 from 60S pre-ribosomes in the cytoplasm, allowing the assembly of mature ribosomes [ ]. |
Short Name | Sdo1/SBDS |