Primary Identifier | MGI:96031 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 15139 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable endopeptidase inhibitor activity. Involved in positive regulation of angiogenesis. Acts upstream of or within several processes, including glomerulus development; inflammatory response to wounding; and neutrophil homeostasis. Predicted to be located in extracellular space. Predicted to be part of membrane attack complex. Is expressed in several structures, including central nervous system; future brain; genitourinary system; hemolymphoid system; and respiratory system. Human ortholog(s) of this gene implicated in several diseases, including complement component 5 deficiency; liver cirrhosis; neutropenia; paroxysmal nocturnal hemoglobinuria; and pneumonia. Orthologous to human C5 (complement C5). PHENOTYPE: Macrophage from mice homozygous for disruptions of this gene do not secrete complement C5. The 2 bp deletion found in A/J and AKR/J strains is associated with susceptibility to allergen-induced bronchial hyperresponsiveness and is a candidate for QTL Abhr2. [provided by MGI curators] |