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      https://www.ias.ac.in/article/fulltext/jbsc/045/0146

    • Keywords

       

      Ankyrins; cellular adhesion; cellular integrity; immunity; neuronal health

    • Abstract

       

      Ankyrins (Ank) are ubiquitously expressed proteins that play a critical role in the integrity of cytoskeleton andcellular signalling. Their presence in metazoans and evolutionary conserved protein primary sequence indicatestheir functional significance. Tissue-specific isoforms and an array of transcript variants make this protein oneof the indispensable cellular components. Membrane-binding domains consist of ankyrin repeats that bind withseveral functional membrane proteins that enable maintaining cellular integrity. Cytosolic ankyrins help incellular signal transduction. Linkage studies and recent genome-wide association studies uncovered thepathogenic roles of ankyrins (ankyrin-R, ankyrin-B and ankyrin-G) in several diseases, such as hereditaryspherocytosis, 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.

    • Author Affiliations

       

      NIDHI SHARMA1 KAMLESH BHAM1 SABYASACHI SENAPATI1

      1. Immunogenomics Laboratory, Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, Punjab 151401, India
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