| Modification Notes |
Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases, such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD60 (ankyrin repeat domain 60) is a 345 amino acid protein that is conserved in dog, cow, mouse, rat and chicken. Containing two ANK repeats and one ubiquitin-like domain, ANKRD60 is linked to human height and may be involved in human growth and development. ANKRD60 is encoded by a gene that maps to human chromosome 20, which represents 2% of human DNA and consists of approximately 63 million bases encoding 600 genes. Chromosome 20 contains a region of numerous genes that are expressed in the epididymis and may be important for seminal production and male contraception. Human transmissible spongiform encephalopathies, Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are associated with chromosome 20. |