其他名称： NEFH; KIAA0845; NFH; Neurofilament heavy polypeptide; NF-H; 200 kDa neurofilament protein; Neurofilament triplet H protein
分子量： 112kD
信号通路： Amyotrophic lateral sclerosis (ALS);
功能： disease:Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.,function:Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.,online information:ALS genetic mutations db,polymorphism:The number of repeats is shown to vary between 29 and 30.,PTM:Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincident with a change in the neurofilament function.,PTM:There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.,similarity:Belongs to the intermediate filament family.,
其他名称： NEFH; KIAA0845; NFH; Neurofilament heavy polypeptide; NF-H; 200 kDa neurofilament protein; Neurofilament triplet H protein
分子量： 112kD
信号通路： Amyotrophic lateral sclerosis (ALS);
功能： disease:Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.,function:Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.,online information:ALS genetic mutations db,polymorphism:The number of repeats is shown to vary between 29 and 30.,PTM:Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincident with a change in the neurofilament function.,PTM:There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.,similarity:Belongs to the intermediate filament family.,
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