SBDS Antibody (S-15): sc-49257

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The 249 amino acid Shwachman-Bodian-Diamond syndrome (SBDS) protein belongs to the UPF0023 family. SBDS is widely expressed and may be involved in RNA metabolism. SBDS contains a C-terminal domain, a central domain and an N-terminal domain. The C-terminal domain has a ferredoxin-like fold and is structurally homologous with known RNA-binding domains. The central domain contains a three-helical bundle. The N-terminal domain consists of a three-dimensional a/b fold and is the most frequent target of disease-linked mutations. Mutations in the SBDS gene cause Shwachman-Diamond syndrome (SDS), an autosomal recessive marrow failure disorder marked by hematologic dysfunction, skeletal abnormalities and pancreatic exocrine insufficiency. SDS is also characterized by an increased risk of leukemia and myelodysplasia in as many as one third of affected individuals.