UXT

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The UXTX Gene: A Comprehensive Guide

Description:

The UXTX gene, short for ubiquitously transcribed tetratricopeptide repeat, X-linked, encodes a protein involved in several essential cellular processes. It contains a tetratricopeptide repeat (TPR) domain, which facilitates protein-protein interactions and serves as a scaffolding platform for the assembly of various protein complexes. The UXTX protein plays crucial roles in transcription, RNA processing, and DNA damage repair mechanisms.

Associated Diseases:

Mutations in the UXTX gene have been linked to a rare X-linked developmental disorder known as Coffin-Lowry syndrome (CLS). CLS affects males primarily and is characterized by a distinctive facial appearance, intellectual disability, growth retardation, and skeletal abnormalities. The severity of CLS varies depending on the specific mutation involved.

Did you Know ?

Coffin-Lowry syndrome affects approximately 1 in 50,000 males worldwide.