ADAMTS2: A gene that encodes a metalloproteinase enzyme. This enzyme is responsible for processing type I, type II, and type V procollagen proteins. Procollagens are the precursors of collagens, the proteins that add strength and support to many body tissues. Specifically, this enzyme clips a short chain of amino acids off of one end of the procollagen. The clipping step is necessary for proper assembly and function of collagen molecules.
Mutations in the ADAMTS2 gene have been identified in patients with Ehlers-Danlos syndrome, dermatosparaxis type. These mutations greatly reduce the production of the enzyme made by ADAMTS2. Procollagen cannot be processed correctly without this enzyme. As a result, type I collagen fibrils are not assembled properly; they appear ribbon-like and disorganized under the microscope. Cross-links, or chemical interactions, between collagen fibrils are also affected. These defects weaken connective tissue, particularly in the skin, which causes the symptoms of the disorder.
The ADAMTS2 gene is located on the long (q) arm of chromosome 5 at the end (terminal) of the arm. ADAMTS2 stands for A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 2.
- Adapter protein
Adapter protein: A protein acts as a connecting molecule. An adapter protein is critical to intermolecular interactions and plays a role in the regulation of signal transduction initiated by engagement of surface receptors on all cell types. Some adapter proteins are expressed in all tissues, while the expression of other adapter proteins is restricted to […]
- ADCC (antibody-dependent cell-mediated cytotox.)
ADCC (antibody-dependent cell-mediated cytotoxicity): An immune response in which antibodies, by coating target cells, makes them vulnerable to attack by immune cells. Antibody-dependent cell-mediated cytotoxicity is commonly (and blissfully) abbreviated ADCC.
- ADD (attention deficit disorder)
ADD (attention deficit disorder): ADHD is a common condition that affects children and adolescents, while ADD is more common in adults. ADHD is the most commonly diagnosed mental disorder of children and is more common in boys than in girls. Children with ADHD generally have greater problems paying attention or concentrating. They can’t seem to […]
Addiction: An uncontrollable craving, seeking, and use of a substance such as alcohol or another drug. Dependence is such an issue with addiction that stopping is very difficult and causes severe physical and mental reactions.
- Addison anemia
Addison anemia: A blood disorder caused by a lack of vitamin B12. Patients who have this disorder do not produce the substance in the stomach that allows the body to absorb vitamin B12. This substance is called intrinsic factor (IF). Addison anemia, better known today as pernicious anemia (PA), is characterized by the presence in […]