Anti-Human SETBP1 Antibody Pair

Product Description: SET binding protein 1 (SETBP1) is a crucial protein encoded by the SETBP1 gene located on chromosome 18q12.3. With a molecular mass of approximately 170 kDa, SETBP1 plays a significant role in regulating gene expression through its interaction with the SET protein, a known oncogene. This protein is involved in histone methylation, impacting chromatin accessibility and transcriptional regulation. Mutations in SETBP1 are associated with various disorders: gain-of-function mutations lead to Schinzel-Giedion syndrome (SGS), characterized by severe neurodevelopmental issues and distinct facial features, while loss-of-function mutations result in SETBP1 haploinsufficiency disorder, causing developmental delays and intellectual disabilities. Additionally, somatic mutations in SETBP1 have been implicated in myeloid neoplasms, particularly atypical chronic myeloid leukemia (aCML), where they disrupt normal cellular functions and contribute to disease progression.