抗人 BSDC1 抗体对
01AB02933
BSD domain containing 1 (BSDC1) is a conserved cytoplasmic protein characterized by a central BSD domain, a motif typically found in regulators of transcription and RNA metabolism. Widely expressed with low tissue specificity, BSDC1 functions as part of conserved cellular signaling or trafficking machinery, potentially interacting with paralogs like SYAP1. Although its precise molecular mechanism remains under investigation, BSDC1 is implicated in neurodevelopmental processes. Genetic evidence has identified BSDC1 as a candidate gene for MEND syndrome, a disorder characterized by male sterility, neurological defects, and facial dysmorphism, suggesting a critical role in neural development and maintenance.
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技术参数
- 靶点基因名
- BSDC1
- 蛋白别名
- BSD domain containing 1; BSDC1
- UniProt
- Q9NW68
- 物种
- Human
产品详情
- 靶点名称
- BSDC1
- 蛋白名称
- BSD domain containing 1
- 蛋白别名
- BSD domain-containing protein 1
- 靶点基因名
- BSDC1
- UniProt
- Q9NW68
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
BSD domain containing 1 (BSDC1) is a conserved cytoplasmic protein characterized by a central BSD domain, a motif typically found in regulators of transcription and RNA metabolism. Widely expressed with low tissue specificity, BSDC1 functions as part of conserved cellular signaling or trafficking machinery, potentially interacting with paralogs like SYAP1. Although its precise molecular mechanism remains under investigation, BSDC1 is implicated in neurodevelopmental processes. Genetic evidence has identified BSDC1 as a candidate gene for MEND syndrome, a disorder characterized by male sterility, neurological defects, and facial dysmorphism, suggesting a critical role in neural development and maintenance.