Abcam, ab160843, Recombinant Human MBNL2 protein

Size: 10µg
Recombinant Human MBNL2 protein is a Human Full Length protein, in the 1 to 373 aa range, expressed in Wheat germ, suitable for ELISA, WB.
Key facts
Expression system:Wheat germ,
Tags:GST tag N-Terminus,
Applications:ELISA, WBSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Biologically active:No,
Accession:Q5VZF2,
Animal free:No,
Carrier free:No,
Species:Human,
Storage buffer:pH: 8Constituents: 0.79% Tris HCl, 0.31% Glutathione

Properties and Storage Information:
Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--80°C, Appropriate long-term storage conditions--80°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Muscleblind-like 2 (MBNL2) is an RNA-binding protein important for alternative splicing regulation with a mass approximately 39 kDa. Scientists also call it MBNL2. It is a member of the muscleblind-like protein family and displays extensive expression in skeletal muscle heart and brain tissues. MBNL2 contains four zinc finger domains typical for nucleic acid binding and interacts with pre-mRNA to influence splicing stability and translation processes. This interaction contributes to the regulation of diverse cellular activities.
Biological function summary
MBNL2 plays significant roles in the control of RNA splicing editing and transport. It does not work alone but often operates as part of a larger protein complex. The protein influences post-transcriptional gene expression and is essential for maintaining the proper isoform expression of various target proteins. This regulation affects development differentiation and function of muscle and neuronal tissues. MBNL2 serves as an important player in adjusting splicing patterns in response to cellular signals and stresses impacting the cell's adaptability and function.
Pathways
MBNL2 is intimately involved in the myotonic dystrophy splicing pathway affecting muscle and neuron function. It has a functional relationship with other muscleblind-like proteins such as MBNL1. These proteins collectively collaborate to regulate exon inclusion and exclusion in response to physiological changes. Furthermore MBNL2 participates in the circadian rhythm pathway influencing how cells adapt to daily environmental variations. It modulates the expression and processing of transcripts central to maintaining circadian clock accuracy and stability.
Dysfunction of MBNL2 associates with myotonic dystrophy type 1 (DM1) where abnormal repeats in RNA bind to the protein sequestering it away from normal splicing targets. This sequestration results in mis-splicing of many pre-mRNAs leading to symptoms linked with the disease. In DM1 MBNL2 works dynamically with MBNL1 to maintain splicing patterns and disruptions in their function cause overlapping yet distinct disease phenotypes. Additionally improper regulation of MBNL2 also connects to certain neurodegenerative conditions where alternative splicing errors contribute to pathology.