UniProtSummary | FUNCTION:Neurofilamentsusuallycontainthreeintermediatefilamentproteins:L,M,andHwhichareinvolvedinthemaintenanceofneuronalcaliber. SUBUNITSTRUCTURE:InteractswithRGNEFBysimilarity. DOMAIN:Theextramassandhighchargedensitythatdistinguishtheneurofilamentproteinsfromallotherintermediatefilamentproteinsareduetothetailpieceextensions.Thisregionmayformachargedscaffoldingstructuresuitableforinteractionwithotherneuronalcomponentsorions. PTM:O-glycosylatedBysimilarity. INVOLVEMENTINDISEASE:DefectsinNEFLarethecauseofCharcot-Marie-Toothdiseasetype1F(CMT1F)[MIM:607734].CMT1FisaformofCharcot-Marie-Toothdisease,themostcommoninheriteddisorderoftheperipheralnervoussystem.Charcot-Marie-Toothdiseaseisclassifiedintwomaingroupsonthebasisofelectrophysiologicpropertiesandhistopathology:primaryperipheraldemyelinatingneuropathyorCMT1,andprimaryperipheralaxonalneuropathyorCMT2.NeuropathiesoftheCMT1grouparecharacterizedbyseverelyreducednerveconductionvelocities(lessthan38m/sec),segmentaldemyelinationandremyelinationwithonionbulbformationsonnervebiopsy,slowlyprogressivedistalmuscleatrophyandweakness,absentdeeptendonreflexes,andhollowfeet.CMT1Fischaracterizedbyonsetininfancyorchildhood(range1to13years).DefectsinNEFLarethecauseofCharcot-Marie-Toothdiseasetype2E(CMT2E)[MIM:607684].CMT2EisanautosomaldominantformofCharcot-Marie-Toothdiseasetype2.NeuropathiesoftheCMT2grouparecharacterizedbysignsofaxonalregenerationintheabsenceofobviousmyelinalterations,normalorslightlyreducednerveconductionvelocities,andprogressivedistalmuscleweaknessandatrophy. MISCELLANEOUS:NF-Listhemostabundantofthethreeneurofilamentproteinsand,astheothernonepithelialintermediatefilamentproteins,itcanformhomopolymeric10-nmfilaments. SEQUENCESIMILARITIES:Belongstotheintermediatefilamentfamily. |