锚蛋白重复结构域蛋白20A1抗体

锚蛋白重复结构域蛋白20A1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. ANKRD20A (ankyrin repeat domain-containing protein 20A) is an 823 amino acid protein that contains five ANK repeats. The gene encoding ANKRD20A maps to chromosome 9, which consists of about 145 million bases and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and familial dysautonomia are associated with chromosome 9. Also, chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. Also known as: A20A1_HUMAN; ANKRD20A; ANKRD20A1; Ankyrin repeat domain 20 family member A1; Ankyrin repeat domain 20A; Ankyrin repeat domain containing protein 20A1; Ankyrin repeat domain-containing protein 20A1; DKFZp434A171.锚蛋白重复结构域蛋白20A1抗体