BAT2L (C-14) Antikörper: sc-169981

BAT2L Background Information
BAT2L (BAT2-like 1), also known as HLA-B-associated transcript 2-like 1 or KIAA0515, is a 1,535 amino acid protein expressed as four isoforms produced by alternative splicing events. The gene that encodes BAT2L maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome, encoding 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, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias.