Primary Identifier | MGI:96211 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 15439 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hemoglobin binding activity; identical protein binding activity; and serine-type endopeptidase activity. Acts upstream of or within Notch signaling pathway and response to bacterium. Located in extracellular space. Is expressed in several structures, including adrenal gland; immune system; liver; lung; and white fat. Human ortholog(s) of this gene implicated in several diseases, including Plasmodium falciparum malaria; artery disease (multiple); gout; hyperglycemia; and obesity. Orthologous to human HP (haptoglobin) and HPR (haptoglobin-related protein). PHENOTYPE: Homozygotes for a null allele exhibit partial postnatal lethality, susceptibility to induced acute hemolysis, and altered renal iron loading during aging and after ischemic injury. Homozygotes for a knock-in allele show reduced cholesterol efflux and enhanced nephropathy in STZ-induced diabetes. [provided by MGI curators] |