Protein Information

Name CMT2
Synonyms CMT 2; CMT2; Caught by MAD2 protein; MAD2L1 binding protein; MAD2L1BP; RP1 261G23.6; dJ261G23.1; Caught by MAD2 proteins…

Compound Information

Name DSMA
CAS disodium methylarsonate

Reference List

PubMed Abstract RScore(About this table)
10400924 Ellsworth RE, Ionasescu V, Searby C, Sheffield VC, Braden VV, Kucaba TA, McPherson JD, Marra MA, Green ED: The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. Genome Res. 1999 Jun;9(6):568-74.

Additional families have been linked subsequently to the same genomic region, including one with distal spinal muscular atrophy (dSMA) and one with mixed features of dSMA and CMT2; symptoms in both of these latter families closely resemble those seen in the original CMT2D family.
45(0,1,3,5) Details