Background：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.
仕様
Synonyms：EXP,EXP35,EXP40,EXP42,KIAA0428,MBNL,MBNL protein,MBNL1,MBNL1,Muscleblind 41kD isoform,Muscleblind like,Muscleblind like protein 1,Muscleblind like splicing regulator 1,Muscleblind-like protein 1,Triplet expansion RNA binding protein,Triplet-expansion RNA-binding protein
Host：Rabbit
Reactivity：Human,Mouse,Rat
Applications：WB,IHC
Concentration：1mg/ml
Immunogen：Recombinant protein of human MBNL1
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB 1：500 - 1：2000 IHC 1：50 - 1：200
Gene_ID（human）：4154
Swissprot：Q9NR56
Isotype：IgG
Research Areas：Cancer, Epigenetics and Nuclear Signaling
