Primary Identifier | MGI:1347023 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 26462 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein homodimerization activity and thioredoxin-disulfide reductase (NADPH) activity. Acts upstream of or within heart development and hemopoiesis. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; branchial arch; genitourinary system; and liver. Human ortholog(s) of this gene implicated in familial glucocorticoid deficiency. Orthologous to human TXNRD2 (thioredoxin reductase 2). PHENOTYPE: Mice homozygous for a knock-out allele die at E13 due to severe anemia and growth retardation, resulting from perturbed cardiac development and augmented apoptosis of hematopoietic cells. [provided by MGI curators] |