This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomal dominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. [provided by RefSeq, Apr 2010].
Pham-Dinh, Fourbil, Blanquet, Mattéi, Roeckel, Latour, Chazot, Vandenberghe, Dautigny: "The major peripheral myelin protein zero gene: structure and localization in the cluster of Fc gamma receptor genes on human chromosome 1q21.3-q23." in: Human molecular genetics, Vol. 2, Issue 12, pp. 2051-4, (1994) (PubMed).
Hayasaka, Ohnishi, Takada, Fukushima, Murai: "Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1." in: Biochemical and biophysical research communications, Vol. 194, Issue 3, pp. 1317-22, (1993) (PubMed).
Hayasaka, Nanao, Tahara, Sato, Takada, Miura, Uyemura: "Isolation and sequence determination of cDNA encoding the major structural protein of human peripheral myelin." in: Biochemical and biophysical research communications, Vol. 180, Issue 2, pp. 515-8, (1991) (PubMed).
Aliase für MPZ Proteine
myelin protein zero (MPZ) Proteine myelin protein zero (Mpz) Proteine myelin protein zero (mpz) Proteine myelin protein zero S homeolog (mpz.S) Proteine CHM Proteine CMT1 Proteine CMT1B Proteine CMT2I Proteine CMT2J Proteine CMT4E Proteine CMTDI3 Proteine CMTDID Proteine DSS Proteine HMSNIB Proteine MPP Proteine Mpp Proteine P-zero Proteine P0 Proteine p0 Proteine sc:d0186 Proteine wu:fc04b11 Proteine wu:fi30g06 Proteine zgc:103775 Proteine