| HP |
| LOCUS ID | 3240 | |||||||||||||
| GENE_SYMBOL | HP | |||||||||||||
| GENE NAME | haptoglobin | |||||||||||||
| SYNONYMNS | BP HPA1S HP2ALPHA2 | |||||||||||||
| CHROMOSOME | 16 | |||||||||||||
| HOMOLOGENE ID | 121756 |
| microRNAs | NA | NA |
| GENE SUMMARY |
|---|
| 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. Th |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Atherosclerosis | 1. The haptoglobin 2-2 genotype is associated with atherosclerosis in type 2 diabetes mellitus.an association of the haptoglobin 2-2 genotype with low-grade inflammation, haptoglobin concentration and carotid artery intima-media thickness in multi-ethnic Singapore. | 27190085 |
| Nephropathy | 1. The haptoglobin (Hp) genotype (1-1 and 2-2) is a major determinant of nephropathy progression in diabetes mellitus patients. The Iron-Klotho-VDR Axis Is a Major Determinant of Proximal Convoluted Tubule Injury in Haptoglobin 2-2 Genotype Diabetic Nephropathy Patients and Mice. | 30250850 |