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.
Similarity:
Belongs to the mut-7 family.
Contains 1 3'-5' exonuclease domain.
SWISS:
Q8N9H8
Gene ID:
54932
Database links:
Entrez Gene: 54932 Human
SwissProt: Q8N9H8 Human
Unigene: 495553 Human
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