MBNL1, Official Symbol MBNL1provided by HGNC Official Full Name muscleblind like splicing regulator 1provided by HGNC Primary source HGNC:HGNC:6923 See related Ensembl:ENSG00000152601 MIM:606516; AllianceGenome:HGNC:6923 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXP; MBNL Summary This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015] Expression Ubiquitous expression in lymph node (RPKM 38.9), appendix (RPKM 34.6) and 24 other tissues See more Orthologs mouse all