DPPA5 is a 116 amino acid protein that localizes to the cytoplasm and contains one KH domain. Expressed in embryonic germ (EG), primordial germ (PG) and embryonic stem (ES) cells, DPPA5 plays an important role in the maintenance of ES cell pluripotency and may be necessary for proper embryogenesis. The gene encoding DPPA5 maps to human chromosome 6, which contains 170 million base pairs and comprises nearly 6% of the human genome. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer, suggesting the presence of a cancer susceptibility locus. Additionally, Porphyria cutanea tarda, Parkinsons disease, Stickler syndrome and a susceptibility to bipolar disorder are all associated with genes that map to chromosome 6.
