" /> NEFL wt Allele - CISMeF





Preferred Label : NEFL wt Allele;

NCIt synonyms : CMT1F; NF68; Neurofilament, Light Polypeptide 68kDa Gene; CMT2E; FLJ53642; NF-L; NFL; Neurofilament Protein, Light Polypeptide Gene; Neurofilament Protein, Light Chain Gene; Neurofilament Light Chain wt Allele; CMTDIG; Protein Phosphatase 1, Regulatory Subunit 110 Gene; Neurofilament, Light Polypeptide Gene; PPP1R110; Neurofilament Light Gene;

NCIt definition : Human NEFL wild-type allele is located in the vicinity of 8p21 and is approximately 6 kb in length. This allele, which encodes neurofilament light polypeptide protein, plays a role in both the establishment and maintenance of axonal and dendritic structures. Mutation of the gene is associated with Charcot-Marie-Tooth disease types 1F and 2E.;

GenBank Accession Number : NM_006158;

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11/05/2025


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