KBTBD13

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Description

The KBTBD13 (kelch repeat and BTB domain containing 13) is a protein-coding gene located on chromosome 15.

KBTBD13 acts as a specific adapter within a larger protein complex known as a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase. This complex is responsible for attaching a small protein tag called ubiquitin to other proteins, often marking them for destruction.

KBTBD13 is also known as HCG1645727, NEM6.

Associated Diseases

• Nemaline myopathy 6
• Childhood-onset nemaline myopathy