DMRTA2 is a 542 amino acid protein that localizes to the nucleus and contains one DM DNA-binding domain. Expressed testis, DMRTA2 is thought to be involved in sexual developmental processes during maturation. The gene encoding DMRTA2 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. Aberrations in chromosome 1 are found in a variety of cancers, including head and neck cancer, malignant melanoma and multiple myeloma.