Primary Identifier | MGI:95804 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 14782 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glutathione-disulfide reductase (NADPH) activity. Predicted to be involved in several processes, including cell redox homeostasis; cellular response to oxidative stress; and glutathione metabolic process. Located in external side of plasma membrane. Is expressed in brain ventricular layer; gut; lung; metanephros; and retina. Human ortholog(s) of this gene implicated in cataract and macular degeneration. Orthologous to human GSR (glutathione-disulfide reductase). PHENOTYPE: A homozygous mutation disrupting this gene between exon 1-2 results in a decreased retinal artery-to-vein ratio. Another small deletion of exons 2-5 has no phenotypic effect. Electrophoretic alleles designated a (C57BL/6, CE) vs. allele b (SJL, SWR) are known. [provided by MGI curators] |