ADAMTS2 gene

ADAM metallopeptidase with thrombospondin type 1 motif 2

The ADAMTS2 gene provides instructions for making an enzyme that processes several types of procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules found in the spaces between cells that add strength, support, and stretchiness (elasticity) to many body tissues. The ADAMTS2 enzyme cuts a short chain of protein building blocks (amino acids) off one end of procollagens. This clipping step is necessary for the resulting collagen molecules to assemble into strong, slender fibrils.

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 that support 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.

Cytogenetic Location: 5qter, which is the long (q) arm of chromosome 5 at the end (terminus) of the arm

Molecular Location: base pairs 179,110,851 to 179,345,430 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5qter, which is the long (q) arm of chromosome 5 at the end (terminus) of the arm
  • a disintegrin and metalloproteinase with thrombospondin motifs 2
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
  • ADAM metallopeptidase with thrombospondin type 1 motif, 2
  • ADAM-TS2
  • ATS2_HUMAN
  • hPCPNI
  • NPI
  • PCINP
  • PCPNI
  • pNPI
  • procollagen I N-proteinase
  • procollagen I/II amino-propeptide processing enzyme
  • procollagen N-endopeptidase