MBNL3
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
