PTPN22

Description

PTPN22, or Protein Tyrosine Phosphatase Non-Receptor Type 22, is a gene that plays a crucial role in the regulation of the immune system. It encodes an enzyme that dephosphorylates proteins involved in T cell activation, thereby controlling the strength and duration of immune responses. Variations in the PTPN22 gene have been linked to an increased susceptibility to autoimmune diseases, primarily affecting the immune system‘s ability to distinguish between self and non-self antigens. Understanding the role of PTPN22 in autoimmune disorders can pave the way for novel diagnostic and therapeutic approaches.

Associated Diseases

• Rheumatoid arthritis (RA)
• Type 1 diabetes (T1D)
• Systemic lupus erythematosus (SLE)
• Sjogren‘s syndrome
• Multiple sclerosis (MS)
• Crohn‘s disease
• Psoriasis
• Graves‘ disease
• Hashimoto‘s thyroiditis

Did you know?

The most common PTPN22 variant, known as the R620W polymorphism, is present in approximately 10-20% of the population, making it one of the most frequently observed genetic variations associated with autoimmune disease susceptibility.