Aberrant transport protein particle C4 linked to severe syndromic intellectual disability

Takeaway

  • The conserved transport protein particle (TRAPP) complexes play a crucial role in human autophagy and anomalies of one of its core subunits are associated with a distinct neurological disorder.

Why this matters

    By identifying the first individuals with a pathogenic variant of the transport protein particle C4, these findings expand the number of genes linked to neurological disorder.