DMRTA1 is a 504 amino acid protein that localizes to the nucleus and contains one DM DNA-binding domain. Expressed in prostate, liver, pancreas and kidney and present at lower levels in ovary and testis, DMRTA1 is thought to be involved in sexual developmental processes during maturation. The gene encoding DMRTA1 maps to human chromosome 9, which houses over 900 genes and comprises nearly 4% of the human genome. 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.