Ankyrin

Ankyrin is a family of proteins that mediate the attachment of integral membrane proteins to the spectrin-actin based membrane cytoskeleton. Ankyrins have binding sites for the beta subunit of spectrin and at least 12 families of integral membrane proteins. This linkage is required to maintain the integrity of the plasma membranes and to anchor specific ion channels, ion exchangers and ion transporters in the plasma membrane.

Structure

Ankyrins are composed of three structural domains: an N-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a C-terminal regulatory domain which is the least conserved and subject to variation.

Function

Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically located in the cytoplasm, but they can also be found in the nucleus and cell junctions.

Clinical significance

Mutations in ankyrin genes have been associated with a number of diseases including hereditary spherocytosis, type 2 long QT syndrome, and the cardiac arrhythmia Brugada syndrome.

See also

• Spectrin
• Cell membrane
• Ion channel

References

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