The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
A combination of structural, biochemical, and genetic studies in model organisms was used
to infer a cellular role for the human protein (SBDS) responsible for Shwachman-Bodian-
Diamond syndrome. The crystal structure of the SBDS homologue in Archaeoglobus
fulgidus, AF0491, revealed a three domain protein. The N-terminal domain, which harbors
the majority of disease-linked mutations, has a novel three-dimensional fold. The central
domain has the common winged helix-turn-helix motif, and the C-terminal domain shares …
to infer a cellular role for the human protein (SBDS) responsible for Shwachman-Bodian-
Diamond syndrome. The crystal structure of the SBDS homologue in Archaeoglobus
fulgidus, AF0491, revealed a three domain protein. The N-terminal domain, which harbors
the majority of disease-linked mutations, has a novel three-dimensional fold. The central
domain has the common winged helix-turn-helix motif, and the C-terminal domain shares …
