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].
Higham, Baker, Jackson, Shah, Lea, Singh: "Dysregulation of the CD163-Haptoglobin Axis in the Airways of COPD Patients." in: Cells, Vol. 11, Issue 1, (2022) (PubMed).
Cao, Chen, Gao, Hu, Liang, Xiao: "Identification of a protein associated with the activity of cytokine-induced killer cells." in: Oncology letters, Vol. 14, Issue 6, pp. 6937-6942, (2017) (PubMed).
Kälsch, Pott, Takeda, Kumamoto, Möllmann, Canbay, Sitek, Baba: "Bathing in carbon dioxide-enriched water alters protein expression in keratinocytes of skin tissue in rats." in: International journal of biometeorology, (2016) (PubMed).
Sammour, Nakhoul, Levy, Miller-Lotan, Nakhoul, Awad, Gonen, Ohel: "Haptoglobin phenotype in women with preeclampsia." in: Endocrine, Vol. 38, Issue 2, pp. 303-8, (2010) (PubMed).
Carter, Worwood: "Haptoglobin: a review of the major allele frequencies worldwide and their association with diseases." in: International journal of laboratory hematology, Vol. 29, Issue 2, pp. 92-110, (2007) (PubMed).
Sadrzadeh, Bozorgmehr: "Haptoglobin phenotypes in health and disorders." in: American journal of clinical pathology, Vol. 121 Suppl, pp. S97-104, (2004) (PubMed).
Wassell: "Haptoglobin: function and polymorphism." in: Clinical laboratory, Vol. 46, Issue 11-12, pp. 547-52, (2001) (PubMed).
Bloom, Gerald, Reisman: "Ring D chromosome: a second case associated with anomalous haptoglobin inheritance." in: Science (New York, N.Y.), Vol. 156, Issue 3783, pp. 1746-8 (PubMed).