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Adaptor protein complexes and disease at a glance.

Anneri SangerJennifer HirstAlexandra K DaviesMargaret S Robinson
Published in: Journal of cell science (2019)
Adaptor protein (AP) complexes are heterotetramers that select cargo for inclusion into transport vesicles. Five AP complexes (AP-1 to AP-5) have been described, each with a distinct localisation and function. Furthermore, patients with a range of disorders, particularly involving the nervous system, have now been identified with mutations in each of the AP complexes. In many cases this has been correlated with aberrantly localised membrane proteins. In this Cell Science at a Glance article and the accompanying poster, we summarize what is known about the five AP complexes and discuss how this helps to explain the clinical features of the different genetic disorders.
Keyphrases
  • transcription factor
  • stem cells
  • single cell
  • amino acid
  • protein protein
  • cell therapy
  • gene expression
  • dna methylation
  • genome wide
  • copy number
  • bone marrow
  • mesenchymal stem cells