A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs

Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167126. doi: 10.1016/j.bbadis.2024.167126. Epub 2024 Mar 18.
No abstract available

Keywords: E3 ubiquitin ligase; MID1/TRIM18; Microtubule localisation; Opitz G/BBB syndrome; Ubiquitination.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cleft Palate* / genetics
  • Esophagus* / abnormalities
  • Genetic Diseases, X-Linked*
  • Humans
  • Hypertelorism*
  • Hypospadias*
  • Mutation, Missense*
  • Ubiquitin-Protein Ligases / genetics
  • Ubiquitin-Protein Ligases / metabolism

Substances

  • Ubiquitin-Protein Ligases

Supplementary concepts

  • Opitz GBBB Syndrome, X-Linked