Primary Identifier | MGI:103181 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 20657 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables superoxide dismutase activity. Acts upstream of or within response to hypoxia. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; genitourinary system; and neural ectoderm. Human ortholog(s) of this gene implicated in several diseases, including coronary artery disease (multiple); diabetes mellitus (multiple); diabetic retinopathy; lung disease (multiple); and polyneuropathy. Orthologous to human SOD3 (superoxide dismutase 3). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to hyperoxia, increased LPS-stimulated spleen production of TNF, and enhanced severity of collagen-induced arthritis. A substitution in the extracellular matrix-binding domain causes redistribution of the expressed peptide to extracellular fluids, increasing cardiovascular disease risk but reducing lung disease risk. [provided by MGI curators] |