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The official name of this gene is “ankyrin 1, erythrocytic.”
ANK1 is the gene's official symbol. The ANK1 gene is also known by other names, listed below.
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.
The ANK1 gene belongs to a family of genes called ANKRD (ankyrin repeat domain containing).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
Cytogenetic Location: 8p11.1
Molecular Location on chromosome 8: base pairs 41,653,225 to 41,896,762
The ANK1 gene is located on the short (p) arm of chromosome 8 at position 11.1.
More precisely, the ANK1 gene is located from base pair 41,653,225 to base pair 41,896,762 on chromosome 8.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ANK1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cell membrane ; deficiency ; DNA ; erythrocyte ; expressed ; gene ; hereditary ; protein ; red blood cell
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.