人 SETBP1 抗体对
01AB00398
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.
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技术参数
- 靶点基因名
- SETBP1
- 基因别名
- KIAA0437
- 蛋白别名
- SET binding protein 1; SETBP1
- UniProt
- Q9Y6X0
- 物种
- Human
产品详情
- 靶点名称
- SETBP1
- 蛋白名称
- SET binding protein 1
- 蛋白别名
- SET-binding protein; SEB
- 靶点基因名
- SETBP1
- 基因别名
- KIAA0437
- UniProt
- Q9Y6X0
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
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.