C9orf30 Polyclonal Antibody

C9orf30 is a 275 amino acid protein that is expressed in brain and belongs to the UPF0439 family. The gene encoding C9orf30 maps to human chromosome 9q31.1. Chromosome 9 consists of about 145 million bases, represents 4% of the human genome and encodes nearly 900 genes. Thought 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.

Chromosome 9 open reading frame 30; CI030; FLJ34973; Hypothetical protein LOC91283; L8; MGC17337; OTTHUMP00000021792; UPF0439 protein C9orf30; MSD3_HUMAN.