基因名:
ANKRD26
产品别名:
THC2; bA145E8.1; ANKRD26; ankyrin repeat domain containing 26; ankyrin repeat domain containing 26; ankyrin repeat domain-containing protein 26; GNS/ANKRD26/NCKAP1L fusion; ankyrin repeat domain 26; 锚蛋白重复结构域蛋白26;
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. ANKRD26 (ankyrin repeat domain-containing protein 26) is a 1709 amino acid protein that contains five ANK repeats. Expressed at high level in many tissues, including brain, liver, kidney and heart, ANKRD26 may be phosphorylated upon DNA damage by Atm or ATR. ANKRD26 is also expressed in the arcuate and ventromedial nuclei within the hypothalamus and in the ependyma and the circumventricular organs that act as an interface between the peripheral circulation and the brain. It is suggested that alterations in the gene encoding ANKRD26 may lead to obesity. Three isoforms of ANKRD26 exists due to alternative splicing events.