DEF8 is a 512 amino acid protein that is expressed at highest levels in peripheral leukocytes. It is expressed as five isoforms as a result of alternative splicing events. The gene encoding DEF8 maps to chromosome 16, which encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The rare disorder Rubinstein-Taybi syndrome is associated with chromosome 16, as is Crohns disease, a gastrointestinal inflammatory condition that may involve the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier.
