DMPK Polyclonal Antibody, 50ul Mini dry bath Mutations in this gene cause

Mutations in this gene cause cranioectodermal dysplasia-1

The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity

through binding to its C-terminal region

alternatively spliced transcript variants encoding a range of isoforms have been described

DMPK Polyclonal Antibody, 50ul Mini dry bath Mutations in this gene causeDystrophia myotonica protein kinase encoded by DMPK is a serine threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta subunit of the L type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5 38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50 5,000 copies causes