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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
General
zinc finger protein
Properties
MOTIF: Zinc finger
NAME: Zinc finger
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM 606516
UniProt Q9NR56
Pfam PF00642
References
UniProt :accession Q9NR56