人 NEFL 抗体对
01AB03522
NEFL encodes the light chain of neurofilaments, which are structural proteins that maintain the caliber of neuronal axons. Mutations in the NEFL gene can lead to Charcot-Marie-Tooth disease types 1F and 2E, which are disorders of the peripheral nervous system characterized by neuropathies.Disturbances in the metabolism and localization of NEFL, as well as mutations in the NEFL gene, have been implicated in the pathogenesis of various neurodegenerative diseases, including Alzheimer's disease, Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), and Huntington's disease. NEFL can be released from damaged neurons and elevated levels of NEFL in the cerebrospinal fluid and blood have been reported as a biomarker for neuronal injury in these conditions. The detection of NEFL has potential applications in disease diagnosis, prognosis, and monitoring of therapeutic treatments.
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技术参数
- 靶点基因名
- NEFL
- 基因别名
- NF68; NFL
- 蛋白别名
- neurofilament light chain; NEFL
- UniProt
- P07196
- 物种
- Human
产品详情
- 靶点名称
- NEFL
- 蛋白名称
- neurofilament light chain
- 蛋白别名
- Neurofilament light polypeptide; NF-L; 68 kDa neurofilament protein; Neurofilament triplet L protein
- 靶点基因名
- NEFL
- 基因别名
- NF68; NFL
- UniProt
- P07196
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
NEFL encodes the light chain of neurofilaments, which are structural proteins that maintain the caliber of neuronal axons. Mutations in the NEFL gene can lead to Charcot-Marie-Tooth disease types 1F and 2E, which are disorders of the peripheral nervous system characterized by neuropathies.Disturbances in the metabolism and localization of NEFL, as well as mutations in the NEFL gene, have been implicated in the pathogenesis of various neurodegenerative diseases, including Alzheimer's disease, Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), and Huntington's disease. NEFL can be released from damaged neurons and elevated levels of NEFL in the cerebrospinal fluid and blood have been reported as a biomarker for neuronal injury in these conditions. The detection of NEFL has potential applications in disease diagnosis, prognosis, and monitoring of therapeutic treatments.