The<unk>  gene is mutated in the rare<unk>  syndrome<unk>  polyendocrinopathy syndrome type 1 (APS-1), also known as<unk>  polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Different mutations are more common among certain populations in the world. The most common mutations of<unk>  occur on exons 1, 2, 6, 8, and 10. Exons 1 and 2 encode the HSR, exon 6 encodes the SAND domain, exon 8 is in the PHD-1 domain, and exon 10 is located in the proline-rich region between the two PHD finger domains. Known mutations in<unk>  include Arg139X, Arg257X, and Leu323SerfsX51. Disruption of<unk>  results in the development of a range of<unk>  diseases, the most common clinical conditions in the syndrome are hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidiasis. A gene knockout of the murine homolog of<unk>  has created a transgenic mouse model that is used to study the mechanism of disease in human patients.
Autoimmune regulator
Inflammatory cytokine
Lymphokine
Tumor antigen
Cytokine
Bacterial adhesin
Autoantibody
Microantibody