3oai

Structural highlights

Disease

MYP0_HUMAN Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome;Autosomal dominant intermediate Charcot-Marie-Tooth disease type D;Autosomal dominant Charcot-Marie-Tooth disease type 2I;Roussy-Levy syndrome;Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain;Dejerine-Sottas syndrome;Charcot-Marie-Tooth disease type 1B;Autosomal dominant Charcot-Marie-Tooth disease type 2J. 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

MALE_ECOLI Involved in the high-affinity maltose membrane transport system MalEFGK. Initial receptor for the active transport of and chemotaxis toward maltooligosaccharides.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