Primary Identifier | MGI:2176887 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 170744 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity; nucleic acid binding activity; and pattern recognition receptor activity. Acts upstream of or within regulation of protein phosphorylation. Predicted to be located in external side of plasma membrane. Predicted to be active in plasma membrane. Is expressed in brain and liver. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human TLR8 (toll like receptor 8). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased anti-nuclear antigen antibodies, altered immunoglobulin levels, decreased marginal zone, B-1a, and B-1b cells, splenomegaly, and glomerulonephritis. [provided by MGI curators] |