InterPro domain: IPR018881

General Information

  • Number of genes 119
  • Gene duplication stats Loading...

Abstract

This family includes C2orf69 from human, previously known as UPF0565, which is an important regulator of human mitochondrial function and may also influence other metabolic pathways [ 1 ].


1. C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest

Species distribution

Gene table

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