Chromosome 9 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. The C9orf78 gene product has been provisionally designated C9orf78 pending further characterization.
Synonyms: bA409K20.3, C9orf78, Chromosome 9 open reading frame 78, CI078_HUMAN, HCA59, Hepatocellular carcinoma associated antigen 59, Hepatocellular carcinoma-associated antigen 59, HSPC220, Uncharacterized protein C9orf78.