8iia

Structural highlights

Disease

MYP0_HUMAN Charcot-Marie-Tooth disease type 1B;Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain;Roussy-Levy syndrome;Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome;Autosomal dominant Charcot-Marie-Tooth disease type 2J;Autosomal dominant Charcot-Marie-Tooth disease type 2I;Autosomal dominant intermediate Charcot-Marie-Tooth disease type D;Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease may be caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

MYP0_HUMAN Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.^{[1] [2]}

References

1. ↑ Lagueny A, Latour P, Vital A, Rajabally Y, Le Masson G, Ferrer X, Bernard I, Julien J, Vital C, Vandenberghe A. Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. Neuromuscul Disord. 1999 Oct;9(6-7):361-7. PMID:10545037 doi:10.1016/s0960-8966(99)00031-0
2. ↑ Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet. 2008 Jul 1;17(13):1877-89. PMID:18337304 doi:10.1093/hmg/ddn083