Human SBDS ELISA Kit (HUFI06656)

Researchers investigating ribosomopathies, inherited bone marrow failure syndromes, and pancreatic development can quantify Shwachman-Bodian-Diamond Syndrome (SBDS) protein levels using this ELISA kit from Assay Genie. SBDS is a conserved ribosome biogenesis factor that associates with the 60S ribosomal subunit and cooperates with the GTPase EFL1 to drive removal of the anti-association factor eIF6 during late 60S maturation.

Loss-of-function mutations in SBDS cause Shwachman-Diamond Syndrome, an autosomal recessive disorder marked by exocrine pancreatic insufficiency, skeletal dysplasia, and progressive cytopenia with risk of progression to myelodysplastic syndrome and acute myeloid leukemia. Investigators studying these hematologic and pancreatic phenotypes, as well as the broader role of SBDS in translational control and cellular stress responses, employ this assay in in vitro cell culture systems and patient specimen analysis for research use only.

The microplate-based kit includes all reagents required to perform the assay and is intended for research use only. Store refrigerated components according to the enclosed protocol, and avoid repeated freeze-thaw cycles of working reagents to preserve activity.