Mouse ADAM Metallopeptidase With Thrombospondin Type 1 Motif 20 (ADAMTS20) ELISA Kit

Background

ADAMTS20, also known as A Disintegrin And Metalloproteinase with Thrombospondin Motifs 20, is a member of the ADAMTS protein family .ADAMTS20, like other members of the ADAMTS family, contains multiple domains including a metalloproteinase domain responsible for its enzymatic activity, as well as thrombospondin type-1 (TSP-1) motifs. The precise function of ADAMTS20 is not fully understood, but it is believed to be involved in various biological processes, including extracellular matrix remodeling, tissue development, and possibly cell migration and adhesion. Studies have suggested potential roles for ADAMTS20 in skeletal development, as well as in the formation and maintenance of other tissues.Mutations in the ADAMTS20 gene have been associated with several genetic disorders, including Weill-Marchesani syndrome (WMS) and recessive isolated ectopia lentis (RIEL). WMS is characterized by short stature, brachydactyly (short fingers), joint stiffness, and eye abnormalities such as microspherophakia (small, spherical lenses) and ectopia lentis (dislocated lenses). RIEL is a milder form of ectopia lentis, characterized by dislocated lenses without other systemic features.