Description
Product Characteristics: An acute-phase plasma protein found in human plasma at 100-300 mg per 100 ml. Binds hemoglobin, thus preventing loss of iron through the kidneys. Humans are polymorphic for haptoglobin, with three major phenotypes. Hp 1-1 is the most common, and the most effective in binding free hemoglobin. Hp 2-2 is the least effective. This functional difference may be associated with the frequency and severity of epilepsy attacks, as researchers have found a correlation between recurring seizures and the Hp 2-2 phenotype.
Target Information: This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohn's disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinson's disease, and a reduced incidence of Plasmodium falciparum malaria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]