人 Neurofilament Heavy Polypeptide 抗体对
01AB00504
Neurofilament heavy chain (NfH) is one of the subunits that make up neurofilaments, which are major cytoskeletal components of neurons. NfH forms the side arms of the neurofilament structure, with neurofilament light chain (NfL) forming the backbone. Abnormal accumulation or altered phosphorylation of NfH is implicated in various neurodegenerative diseases. In Alzheimer's disease, NfH is hyperphosphorylated and an integral component of neurofibrillary tangles. In Parkinson's disease, NfH is found in Lewy bodies and forms a cage-like structure around them. NfH accumulates excessively in axons in giant axonal neuropathy. In amyotrophic lateral sclerosis (ALS), NfH levels in cerebrospinal fluid and blood are highly elevated, correlating with disease progression and survival times.Autoantibodies against NfH aggregates may contribute to the variable expression of plasma NfH levels during ALS progression.,The neurofilament heavy polypeptide (NEFH) is a crucial component of neurofilaments, which are intermediate filaments providing structural support in neurons. NEFH plays a significant role in maintaining the integrity of podocytes, specialized cells in the kidney, by preventing injury and detachment, particularly in conditions like focal segmental glomerulosclerosis and membranous nephropathy. In the nervous system, NEFH contributes to the structural support of axons and is involved in the radial expansion necessary for nerve conduction. Mutations in the NEFH gene can lead to neurodegenerative diseases such as Charcot-Marie-Tooth disease type 2CC, characterized by amyloidogenic protein aggregation causing muscle weakness and atrophy. Additionally, NEFH mutations are implicated in amyotrophic lateral sclerosis (ALS), where they disrupt axonal transport, leading to neurodegeneration. These insights highlight the dual role of NEFH in both structural maintenance and disease pathology across different tissues.
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技术参数
- 靶点基因名
- NEFH
- 基因别名
- KIAA0845; NFH
- 蛋白别名
- neurofilament heavy chain; Neurofilament Heavy Polypeptide
- UniProt
- P12036
- 物种
- Human
产品详情
- 靶点名称
- Neurofilament Heavy Polypeptide
- 蛋白名称
- neurofilament heavy chain
- 蛋白别名
- Neurofilament heavy polypeptide; NF-H; 200 kDa neurofilament protein; Neurofilament triplet H protein
- 靶点基因名
- NEFH
- 基因别名
- KIAA0845; NFH
- UniProt
- P12036
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Neurofilament heavy chain (NfH) is one of the subunits that make up neurofilaments, which are major cytoskeletal components of neurons. NfH forms the side arms of the neurofilament structure, with neurofilament light chain (NfL) forming the backbone. Abnormal accumulation or altered phosphorylation of NfH is implicated in various neurodegenerative diseases. In Alzheimer's disease, NfH is hyperphosphorylated and an integral component of neurofibrillary tangles. In Parkinson's disease, NfH is found in Lewy bodies and forms a cage-like structure around them. NfH accumulates excessively in axons in giant axonal neuropathy. In amyotrophic lateral sclerosis (ALS), NfH levels in cerebrospinal fluid and blood are highly elevated, correlating with disease progression and survival times.Autoantibodies against NfH aggregates may contribute to the variable expression of plasma NfH levels during ALS progression.,The neurofilament heavy polypeptide (NEFH) is a crucial component of neurofilaments, which are intermediate filaments providing structural support in neurons. NEFH plays a significant role in maintaining the integrity of podocytes, specialized cells in the kidney, by preventing injury and detachment, particularly in conditions like focal segmental glomerulosclerosis and membranous nephropathy. In the nervous system, NEFH contributes to the structural support of axons and is involved in the radial expansion necessary for nerve conduction. Mutations in the NEFH gene can lead to neurodegenerative diseases such as Charcot-Marie-Tooth disease type 2CC, characterized by amyloidogenic protein aggregation causing muscle weakness and atrophy. Additionally, NEFH mutations are implicated in amyotrophic lateral sclerosis (ALS), where they disrupt axonal transport, leading to neurodegeneration. These insights highlight the dual role of NEFH in both structural maintenance and disease pathology across different tissues.