Punctin-2 Background Information
Punctin-2, also known as ADAMTSL3 (ADAMTS-like 3) or KIAA1233, is a 1,691 amino acid protein that localizes to the extracellular matrix and contains one PLAC domain, three Ig-like C2 domains and ten TSP type-1 domains. Expressed in a variety of tissues with highest expression in heart, kidney, liver and skeletal muscle, Punctin-2 is thought to play a role in cell-matrix interactions and, when mutated, may be involved in the pathogenesis of colon cancer. The gene encoding Punctin-2 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localized genes.
