MBNL2

Protein_MBNL2_PDB_2E5S

MBNL2

Muscleblind-like 2 (MBNL2) is a gene that encodes an RNA-binding protein involved in the regulation of alternative splicing. It is a member of the Muscleblind-like (MBNL) family of proteins, which play a crucial role in the development and function of muscle and other tissues.

Function

MBNL2 functions as a regulator of alternative splicing, a process by which different exons of a gene can be included or excluded from the final mRNA transcript. This splicing regulation by MBNL2 is essential for the proper development and function of various tissues, particularly muscle tissue.

Clinical Significance

Mutations in the MBNL2 gene have been associated with certain neuromuscular disorders, including myotonic dystrophy type 2 (DM2). In individuals with DM2, the abnormal splicing regulation by MBNL2 leads to muscle weakness, myotonia, and other symptoms characteristic of the disease.

Interactions

MBNL2 has been found to interact with various other proteins involved in RNA processing and splicing, such as CELF proteins and MBNL1. These interactions are crucial for the proper regulation of alternative splicing and the maintenance of cellular homeostasis.

References

This article is a stub related to medicine. You can help WikiMD by expanding it!