PTRH1 is a 214 amino acid protein that belongs to the PTH family. The PTRH1 protein is believed to be involved in RNA splicing, silencing and metabolism. The PTRH1 gene is conserved in chimpanzee, dog, cow, mouse, rat, zebrafish, A.thaliana and rice, and maps to human chromosome 9q34.11. 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.

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