SBDS Gene

The SBDS gene (SBDS stands for "SBDS Ribosome Maturation Factor") is a protein coding gene located on chromosome 7q11.21. This gene has a closely associated pseudogene located distally.

The SBDS gene encodes a highly conserved protein that is essential for the assembly of mature ribosomes and thus for ribosome biogenesis. Here, this protein interacts with the "elongation factor-like GTPase 1" to dissociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit, allowing assembly of the 80S subunit.

The encoded protein, together with EFL1, triggers the GTP-dependent release of EIF6 from 60S primary ribosomes in the cytoplasm, thereby activating ribosomes for translational competence by enabling the assembly of 80S ribosomes and facilitating the recycling of EIF6 to the nucleus, where it is required for 60S rRNA processing and nuclear export. This process is required for normal levels of protein synthesis. Furthermore, the protein may play a role in the cellular response to DNA damage.

Mutations in this gene are associated with the rare autosomal recessive Shwachman-Bodian-Diamond syndrome .

1. Burke V et al (1967) Association of pancreatic insufficiency and chronic neutropenia in childhood. Arch Dis Child 42: 147-157.
2. Goldstein R (1968) Congenital lipomatosis of the pancreas. Malabsorption, dwarfism, leukopenia with relative granulocytopenia and thrombocytopenia. Clin Pediat 7: 419-422.
3. Nezelof C et al. (1961) L'hypoplasie congenitale lipomateuse du pancreas exocrine chez l'enfant (Deux observations et revue de la literature). Arch Franc Pediat. 18: 1135-1172.
4. Pringle EM et al (1968) Syndrome of pancreatic insufficiency, blood dyscrasia and metaphyseal dysplasia. Proc Roy Soc Med 61: 776-777.
5. Shwachman H et al (1964) The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediat 65: 645-663.