Primary Identifier | MGI:106652 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 20822 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables U2 snRNA binding activity. Acts upstream of or within several processes, including cilium assembly; response to UV; and smoothened signaling pathway. Located in cytoplasm and nucleus. Part of ribonucleoprotein complex. Is expressed in embryo. Used to study systemic lupus erythematosus. Orthologous to human RO60 (Ro60, Y RNA binding protein). PHENOTYPE: Homozygous mutant mice develop symptoms similar to those observed in patients with lupus, including increased photosensitivity and membranoproliferative glomerulonephritis. The production of autoantibodies is detected in both homozygous and heterozygous mutant mice. [provided by MGI curators] |