muscleblind-like protein (triplet-expansion RNA-binding protein, MBNL1, EXP, KIAA0428, MBNL)

Function

• binds to CUG triplet repeat expansion dsRNA

Structure

• contains 4 C3H1-type zinc fingers

Compartment

nucleus

Alternative splicing

named isoforms=3

Pathology

• muscular dystrophy may be caused by aberrant recruitment of MBNL to the DMPK transcript (CUG)(n) expansion

More general terms

• zinc finger protein

Database

• OMIM: https://mirror.omim.org/entry/606516
• UniProt: http://www.uniprot.org/uniprot/Q9NR56.html