锚蛋白重复结构域47抗体

锚蛋白重复结构域47抗体 Background: 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. ANKRD47 an 840 amino acid coiled-coil protein that contains five ANK repeats and exists as two alternatively spliced isoforms. Conserved in chimpanzee, dog, cow, mouse and rat, ANKRD47 is expressed in breast, liver, lung, skeletal muscle and kidney. ANKRD47 assists in the formation of actin stress fibers and is encoded by a gene that maps to human chromosome 19p13.2. Chromosome 19 makes up over 2% of the human genome and contains approximately 63 million bases, which encode over 1,400 genes. Recognized for having the greatest gene density of all human chromosomes, chromosome 19 is linked to Peutz-Jeghers syndrome, spinocerebellar ataxia type 6, the stroke disorder CADASIL, hypercholesterolemia and insulin-dependent diabetes Also known as: ANKRD47; Ankyrin repeat domain 47; Ankyrin repeat domain containing protein 47; Ankyrin repeat domain-containing protein 47; FLJ46061; KANK3; KANK3_HUMAN; Kidney ankyrin repeat containing protein 3; KN motif and ankyrin repeat domain containing protein 3; KN motif and ankyrin repeat domain-containing protein 3; KN motif and ankyrin repeat domains 3; Ng28.锚蛋白重复结构域47抗体