PTPN22
protein tyrosine phosphatase non-receptor type 22
Normal Function
Health Conditions Related to Genetic Changes
Vitiligo
Studies have associated the R620W variation in the PTPN22 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation).
As with other autoimmune disorders, this variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control the immune system and prevent it from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.
More About This Health ConditionRelated Conditions
VitiligoAlopecia areataAutoimmune Addison diseaseGraves' diseaseHashimoto's diseaseIdiopathic inflammatory myopathyJuvenile idiopathic arthritisRheumatoid arthritisSystemic lupus erythematosusSystemic sclerodermaType 1 diabetesAutoimmune disorders
Health Conditions Related to Genetic Changes
Studies have associated the R620W variation in the PTPN22 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation).
As with other autoimmune disorders, this variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control the immune system and prevent it from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.
MedlinePlus Genetics provides information about Alopecia areata
MedlinePlus Genetics provides information about Autoimmune Addison disease
MedlinePlus Genetics provides information about Graves' disease
MedlinePlus Genetics provides information about Hashimoto's disease
MedlinePlus Genetics provides information about Idiopathic inflammatory myopathy
MedlinePlus Genetics provides information about Juvenile idiopathic arthritis
MedlinePlus Genetics provides information about Rheumatoid arthritis
MedlinePlus Genetics provides information about Systemic lupus erythematosus
MedlinePlus Genetics provides information about Systemic scleroderma
MedlinePlus Genetics provides information about Type 1 diabetes
Studies have associated a variation in the PTPN22 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, rheumatoid arthritis, Hashimoto thyroiditis, Graves disease, and systemic lupus erythematosus.
The PTPN22 gene variation associated with autoimmune disorders changes the protein building block (amino acid) arginine to the amino acid tryptophan at position 620 in the PTPN22 protein sequence, written as Arg620Trp or R620W. This variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.