Primary Identifier | MGI:109331 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 18230 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables thioredoxin-disulfide reductase (NADPH) activity. Involved in circulatory system development; negative regulation of Wnt signaling pathway; and negative regulation of protein ubiquitination. Acts upstream of or within in utero embryonic development. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; musculoskeletal system; and nervous system. Human ortholog(s) of this gene implicated in autosomal recessive Robinow syndrome 2. Orthologous to human NXN (nucleoredoxin). PHENOTYPE: Homozygous null mice die by P1 and exhibit craniofacial bone defects and cleft palate. [provided by MGI curators] |