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锚蛋白重复结构域蛋白50抗体
半岛bd体育手机客户端 介绍
靶标:
ANKRD50 半岛bd体育手机客户端 别名: ANKRD50; ankyrin repeat domain containing 50; ankyrin repeat domain containing 50; ankyrin repeat domain-containing protein 50; ankyrin repeat domain 50; 锚蛋白重复结构域蛋白50; 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. ANKRD50 (ankyrin repeat domain 50) is a 1,429 amino acid phosphoprotein that contains nineteen ANK repeats. Conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly and mosquito, ANKRD50 is encoded by a gene that maps to human chromosome 4q28.1. Chromosome 4 represents approximately 6% of the human genome and contains nearly 900 genes. Notably, the Huntingtin gene, which encodes an expanded glutamine tract in cases of Huntington's disease, is located on chromosome 4. FGFR-3 is also encoded by a gene that maps to human chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also linked to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
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