MBNL2
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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Contributors: Prab R. Tumpati, MD