AT2X2

AT2X2, also known as ATXN2L, is a gene located on chromosome 12q24.1. It encodes a protein that is a member of the ataxin-2 protein family. These proteins are characterized by the presence of a polyglutamine tract, which can be variable in length. The ATXN2L protein is involved in several cellular processes, including RNA metabolism and translational regulation. It interacts with various RNA-binding proteins and has been implicated in the processing and stability of messenger RNA.

Mutations in the ATXN2L gene have been associated with certain neurological disorders, although the precise mechanisms are still under investigation. The polyglutamine tract within ATXN2L is a key feature, and expansions of this tract are known to cause neurodegenerative diseases in other ataxin proteins, such as ATXN2. Research into ATXN2L continues to explore its role in both normal cellular function and disease pathogenesis. The protein's involvement in RNA granule formation and stress response pathways is an active area of study.

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