Muscleblind Like Protein 2 (MBNL2)

MBNL2 encodes a C3H-type zinc finger protein, which is similar to the Drosophila melanogaster muscleblind B protein. Drosophila muscleblind is a gene required for photoreceptor differentiation. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined.

Myotonic dystrophy (DM1) is a complex neuromuscular disorder associated with DNA expansion mutations in 2 different genes. In DM1 a CTG repeat in the 3-prime-untranslated region of DMPK is expanded, whereas in DM2 an intronic CCTG expansion occurs in the ZNF9 gene. Transcripts containing expanded repeats form foci in the nuclei of DM1 and DM2 cells.MBNL and MBLL were expressed in many adult tissues, whereas MBXL was expressed predominantly in the placenta.