Application:IF
Reactivity: Human
C9orf96, also known as Protein kinase-like protein SgK071, is a 680 amino acid protein that belongs to the Ser/Thr protein kinase family of the protein kinase superfamily. There are three isoforms of C9orf96 that are produced as a result of alternative splicing events. The gene encoding C9orf96 maps to human chromosome 9, which consists of about 145 million bases and 4% of the human genome 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, 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.