MBNL3

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Description

The MBNL3 (muscleblind like splicing regulator 3) is a protein-coding gene located on chromosome X.

Muscleblind-like protein 3 is a protein that in humans is encoded by the MBNL3 gene.

MBNL3 regulates alternative splicing of pre-mRNAs, acting as both an activator and repressor of splicing on specific targets. It inhibits exon inclusion in the cardiac troponin-T (TNNT2) pre-mRNA, but promotes exon inclusion in the insulin receptor (IR) pre-mRNA in muscle. MBNL3 antagonizes the splicing activity of CELF proteins and may play a role in myotonic dystrophy pathophysiology. It could inhibit terminal muscle differentiation, acting around the time of myogenin induction.

MBNL3 is also known as CHCR, MBLX, MBLX39, MBXL.

Associated Diseases

• exercise intolerance, riboflavin-responsive
• autosomal dominant distal myopathy
• GNE myopathy
• tibial muscular dystrophy
• tubular aggregate myopathy
• polyglucosan body myopathy type 2
• myofibrillar myopathy 3
• autosomal recessive limb-girdle muscular dystrophy type 2G
• spinal muscular atrophy, type IV
• autosomal recessive limb-girdle muscular dystrophy type 2L
• inclusion body myopathy with Paget disease of bone and frontotemporal dementia
• muscular dystrophy, limb-girdle, autosomal recessive 23
• inclusion body myopathy and brain white matter abnormalities
• autosomal dominant limb-girdle muscular dystrophy type 1G
• distal myopathy, Welander type
• myopathy, distal, 7, adult-onset, X-linked
• myopathy, centronuclear, 6, with fiber-type disproportion