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Bioss
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.
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Protein Aliases: Transmembrane protein 252; transmembrane protein C9orf71; transmembrane protein C9orf71 homolog
Gene Aliases: C9orf71; E030010A14Rik; RGD1359349; TMEM252
UniProt ID: (Human) Q8N6L7, (Mouse) Q8C353, (Rat) Q6AXS2
Entrez Gene ID: (Human) 169693, (Mouse) 226040, (Rat) 361744
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