基因名:
EXD3
产品别名:
Nbr; mut-7; EXD3; exonuclease 3'-5' domain containing 3; exonuclease 3'-5' domain containing 3; exonuclease mut-7 homolog; exonuclease 3'-5' domain-containing protein 3; nibbler homolog; testicular tissue protein Li 125; EXD3蛋白;
背景信息:
EXD3 is an 876 amino acid protein that contains one 3’-5’ exonuclease domain, suggesting a possible role in nucleotide cleavage. The gene encoding EXDL3 maps to chromosome 9 and is expressed as four isoforms that are produced via alternative splicing events. Chromosome 9 contains 145 million base pairs and comprises 4% of the human genome, encoding nearly 900 genes. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, and Familial dysautonomia, are both associated with chromosome 9. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in translocations that lead to the aberrant production of a BCR-ABL fusion protein often found in leukemias.