Human ankyrins and their contribution to disease biology: An update

J Biosci. 2020:45:146.


Ankyrins (Ank)are ubiquitously expressed proteins that play a critical role in the integrity of cytoskeleton and cellular signalling. Their presence in metazoans and evolutionary conserved protein primary sequence indicates their functional significance. Tissue-specific isoforms and an array of transcript variants make this protein one of the indispensable cellular components. Membrane-binding domains consist of ankyrin repeats that bind with several functional membrane proteins that enable maintaining cellular integrity. Cytosolic ankyrins help in cellular signal transduction. Linkage studies and recent genome-wide association studies uncovered the pathogenic roles of ankyrins (ankyrin-R, ankyrin-B and ankyrin-G) in several diseases, such as hereditary spherocytosis, long QT syndrome, intellectual disability, and CRASH syndrome, among several others. Identification of Ank3 in celiac disease may potentially explain the link between neuronal health and immunity. It is thus warranted to investigate the role of neuronal factors in immune diseases and vice versa. In this review, we briefly discussed the contribution of ankyrin genes to human diseases.

Publication types

  • Review

MeSH terms

  • Ankyrins / genetics*
  • Celiac Disease / genetics
  • Celiac Disease / pathology
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / pathology
  • Genome-Wide Association Study
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / pathology
  • Long QT Syndrome / genetics
  • Long QT Syndrome / pathology
  • Signal Transduction / genetics
  • Spastic Paraplegia, Hereditary / genetics
  • Spastic Paraplegia, Hereditary / pathology
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / pathology


  • ANK1 protein, human
  • ANK2 protein, human
  • ANK3 protein, human
  • Ankyrins

Supplementary concepts

  • MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome