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Normal Function
The ANK1 gene provides instruction for making a protein called ankyrin-1. This protein is primarily active (expressed) in red blood cells, but it is also found in muscle and brain cells. In red blood cells, ankyrin-1 is located at the cell membrane, where it attaches (binds) to other membrane proteins. The binding of membrane proteins to one another maintains the stability and structure of red blood cells but also allows for their flexibility. The proteins allow the cell to change shape without breaking when passing through narrow blood vessels.
In muscle and brain cells, ankyrin-1 performs similar functions, binding to other membrane proteins to play a role in cell stability, cell movement, and other cell functions.
Health Conditions Related to Genetic Changes
Hereditary spherocytosis
At least 55 mutations in the ANK1 gene have been found to cause hereditary spherocytosis. Some of these mutations delete small pieces of genetic material, and others change single DNA building blocks (nucleotides) in the ANK1 gene. These mutations lead to the production of an ankyrin-1 protein that does not function normally and does not bind to other proteins within the red blood cell membrane. A lack of normal ankyrin-1 at the cell membrane also leads to a lack of another protein called spectrin because ankyrin-1 is not available to bind to spectrin. The shortage (deficiency) of these two proteins interferes with the structure and flexibility of the red blood cell membrane, causing red blood cells to be misshapen. These misshapen cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. The shortage of red blood cells in circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of hereditary spherocytosis.
More About This Health ConditionOther Names for This Gene
- ANK
- ANK-1
- ANK1_HUMAN
- ankyrin 1, erythrocytic
- ankyrin-1
- ankyrin-R
- erythrocyte ankyrin
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Bennett V, Healy J. Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin. Trends Mol Med. 2008 Jan;14(1):28-36. doi: 10.1016/j.molmed.2007.11.005. Epub 2007 Dec 20. Citation on PubMed
- Eber S, Lux SE. Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol. 2004 Apr;41(2):118-41. doi: 10.1053/j.seminhematol.2004.01.002. Citation on PubMed
- Mariani M, Barcellini W, Vercellati C, Marcello AP, Fermo E, Pedotti P, Boschetti C, Zanella A. Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect. Haematologica. 2008 Sep;93(9):1310-7. doi: 10.3324/haematol.12546. Epub 2008 Jul 18. Citation on PubMed
- Pasini EM, Lutz HU, Mann M, Thomas AW. Red blood cell (RBC) membrane proteomics--Part I: Proteomics and RBC physiology. J Proteomics. 2010 Jan 3;73(3):403-20. doi: 10.1016/j.jprot.2009.06.005. Epub 2009 Jun 21. Citation on PubMed
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