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 C9orf71 gene product has been provisionally designated C9orf71 pending further characterization.
Synonyms: C9orf71, Chromosome 9 open reading frame 71, TM252_HUMAN, MGC34760, RP11-274B18.1, TMEM252, Transmembrane protein 252, Transmembrane protein C9orf71.