ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
Normal Function
Health Conditions Related to Genetic Changes
Ehlers-Danlos syndrome
Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The dermatosparaxis type is characterized by soft, fragile skin that sags and wrinkles; easy bruising; and distinctive facial features.
Mutations in the ADAMTS2 gene greatly reduce the production or activity of the ADAMTS2 enzyme. Without enough of this enzyme, procollagens cannot be processed correctly. As a result, collagen fibrils are not assembled properly. The resulting fibrils are disorganized, which weakens connective tissues and leads to the signs and symptoms of the disorder.
More About This Health ConditionRelated Conditions
Ehlers-Danlos syndrome
Health Conditions Related to Genetic Changes
Several mutations in the ADAMTS2 gene have been identified in people with a form of Ehlers-Danlos syndrome called the dermatosparaxis type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. The dermatosparaxis type is characterized by soft, fragile skin that sags and wrinkles; easy bruising; and distinctive facial features.
Mutations in the ADAMTS2 gene greatly reduce the production or activity of the ADAMTS2 enzyme. Without enough of this enzyme, procollagens cannot be processed correctly. As a result, collagen fibrils are not assembled properly. The resulting fibrils are disorganized, which weakens connective tissues and leads to the signs and symptoms of the disorder.