人 NBEAL1 抗体对
01AB01768
Neurobeachin like 1 (NBEAL1) is a large cytosolic BEACH-domain protein involved in vesicle trafficking, membrane dynamics, and protein localization. It features C-terminal PH, BEACH, and WD40 repeats, along with a ConA-like lectin domain, and localizes primarily to the Golgi apparatus and associated membranes. Functionally, NBEAL1 acts as a regulator of cholesterol homeostasis by modulating SREBP2 processing and LDL receptor expression through interactions with SCAP and PAQR3. This regulation directly impacts cellular LDL uptake and cholesterol metabolism. Clinically, NBEAL1 is implicated in both oncology and cardiovascular disease. It is significantly upregulated in gliomas, where its expression levels correlate with tumor grade. Furthermore, genetic variants that lower arterial NBEAL1 expression are associated with an increased risk of coronary artery disease, linking NBEAL1 insufficiency to atherosclerotic pathogenesis.
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技术参数
- 靶点基因名
- NBEAL1
- 基因别名
- ALS2CR16; ALS2CR17
- 蛋白别名
- neurobeachin like 1; NBEAL1
- UniProt
- Q6ZS30
- 物种
- Human
产品详情
- 靶点名称
- NBEAL1
- 蛋白名称
- neurobeachin like 1
- 蛋白别名
- Neurobeachin-like protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein
- 靶点基因名
- NBEAL1
- 基因别名
- ALS2CR16; ALS2CR17
- UniProt
- Q6ZS30
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Neurobeachin like 1 (NBEAL1) is a large cytosolic BEACH-domain protein involved in vesicle trafficking, membrane dynamics, and protein localization. It features C-terminal PH, BEACH, and WD40 repeats, along with a ConA-like lectin domain, and localizes primarily to the Golgi apparatus and associated membranes. Functionally, NBEAL1 acts as a regulator of cholesterol homeostasis by modulating SREBP2 processing and LDL receptor expression through interactions with SCAP and PAQR3. This regulation directly impacts cellular LDL uptake and cholesterol metabolism. Clinically, NBEAL1 is implicated in both oncology and cardiovascular disease. It is significantly upregulated in gliomas, where its expression levels correlate with tumor grade. Furthermore, genetic variants that lower arterial NBEAL1 expression are associated with an increased risk of coronary artery disease, linking NBEAL1 insufficiency to atherosclerotic pathogenesis.