APITD1
Description
The APITD1 gene, located on chromosome 1, encodes a protein known as the autoimmune regulator-associated protein. This protein is critical for the development and function of the immune system, particularly in regulating the expression of genes involved in immune responses. APITD1 plays a crucial role in the differentiation and maturation of immune cells, ensuring appropriate immune responses to pathogens while preventing autoimmune reactions.
Associated Diseases
- Autoimmune Polyendocrine Syndrome Type 1 (APS-1)
- Chronic Mucocutaneous Candidiasis (CMC)
- Hypoparathyroidism
- Adrenal Insufficiency
- Diabetes Mellitus
- Alopecia
- Eczema
- Hepatitis
Did you know?
Mutations in the APITD1 gene are the primary cause of Autoimmune Polyendocrine Syndrome Type 1 (APS-1), a rare genetic disorder characterized by the development of multiple autoimmune diseases.
