基因名:
ANKRD54
产品别名:
LIAR; ANKRD54; ankyrin repeat domain 54; ankyrin repeat domain 54; ankyrin repeat domain-containing protein 54; lyn-interacting ankyrin repeat protein; 锚蛋白重复域5; 锚蛋白重复域54;
背景信息:
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. ANKRD53 (ankyrin repeat domain 53) is a 530 amino acid protein that contains three ANK repeats. Conserved in chimpanzee, dog, cow, mouse and zebrafish, ANKRD53 is encoded by a gene that maps to human chromosome 2p13.3. As the second largest human chromosome, chromosome 2 makes up approximately 8% of the human genome and contains 237 million bases encoding over 1,400 genes. Chromosome 2 contains a probable vestigial second centromere, as well as vestigial telomeres, which gives credence to the hypothesis that human chromosome 2 formed as a result of an ancient fusion of two ancestral chromosomes, which are still present in modern day apes.