" /> MPZ wt Allele - CISMeF





Preferred Label : MPZ wt Allele;

NCIt synonyms : Myelin Protein Zero wt Allele; CMTDID; HMSNIB; CMT4E; CMT2I; CMT2J; CMT1; CHM; CHN2; P0 Myelin Protein, Peripheral Gene; MPP; CMT1B; P0; Charcot-Marie-Tooth Neuropathy 1B Gene; DSS; CMTDI3;

NCIt definition : Human MPZ wild-type allele is located in the vicinity of 1q23.3 and is approximately 6 kb in length. This allele, which encodes myelin protein P0, is involved in the structural integrity of the peripheral myelin sheath. Mutation of the gene is associated with congenital hypomyelinating neuropathy 2, Dejerine-Sottas disease, Roussy-Levy syndrome and several forms of Charcot-Marie-Tooth disease, including dominant intermediate D, type 1B, type 2I and type 2J.;

NCIt note : Two isoforms of the MPZ gene are produced from the same mRNA transcript through the use of a stop codon readthrough process that leverages alternative in-frame translation termination codons. (EntrezGene);

NCI Metathesaurus CUI : CL1926480;

GenBank Accession Number : BC006491;

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07/05/2025


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