This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
ANK1 Gene
The gene for erythrocytic ankyrin 1 is located on the short arm of human chromosome 8 at position 11.1. Its molecular location is from base pairs 41,510,743 to 41,754,279 and contains the instructions for the ankyrin 1 protein. [1]
Mutations leading to HS
Any type of mutation in the ANK1 gene can lead to Hereditary Spherocytosis. However, the type of mutation ultimately affects the severity of the disease. For example, a mutation that causes a change in one amino acid may cause the protein to fold incorrectly, but the body can potentially use some of the ankyrin with lowered efficiency leading to less severe symptoms. However, a mutation that truncates the protein or changes a large portion of the sequence will result in little to no usable protein and cause more severe symptoms. [2]
More Gene Information |
References
- Genetics Home Reference. (Reviewed October, 2010) ANK1. Retrieved May 16, 2013. http://ghr.nlm.nih.gov/gene/ANK1
- Eber, S.W., Gonzalez, J.M., Lux, M.L., Scarpa, A.L., Tse, W.T., Dornwell, M., Herbers, J., Kugler, W., Ozcan, R., Pekrun, A., Gallagher, P.G., Shroter, W., Forget, B.G., Lux, S.E. 1996. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nature Genetics 13, 214 – 218 doi:10.1038/ng0696-214