Background information
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes can lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD13B (ankyrin repeat domain 13B) is a 626 amino acid protein that contains two ANK repeats and three ubiquitin-interacting motif (UIM) repeats. Conserved in dog, cow, mouse and rat, ANKRD13B exists as two alternatively spliced isoforms. The gene that encodes ANKRD13B maps to human chromosome 17, which makes up over 2.5% of the human genome, with about 81 million bases encoding over 1,200 genes. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome. BRCA1 is recognized as a genetic determinant of early onset breast cancer. Chromosome 17 is also linked to neurofibromatosis, dysregulated Schwann cell growth, Alexander disease, Birt-Hogg-Dube syndrome and Canavan disease.
