FAM167A (Family with Sequence Similarity 167 Member A) is a susceptibility gene implicated in autoimmune disease pathogenesis, particularly through its genomic linkage with the B-lymphoid tyrosine kinase (BLK) gene. The FAM167A-BLK locus contains polymorphisms that confer genetic risk for multiple autoimmune conditions 1. Mechanistically, variants in this locus appear to influence immune cell function and B-cell differentiation pathways, as evidenced by single-cell expression quantitative trait loci studies showing FAM167A as a causal gene in systemic lupus erythematosus across diverse immune cell types 2. The gene demonstrates significant disease relevance, with meta-analyses confirming that FAM167A-BLK rs2736340 polymorphisms are associated with rheumatoid arthritis, systemic lupus erythematosus, systemic sclerosis, Kawasaki disease, and primary Sjögren's syndrome across multiple ethnic populations 1. Additionally, variants show associations with asthma and allergic rhinitis in Han Chinese populations 3. Clinically, FAM167A represents a promising therapeutic target with low risk of adverse effects, as phenome-wide association studies reveal few significant associations with non-immune traits 2. The gene's upregulation in disease-specific tissues suggests its involvement in pathogenic processes that increase cardiovascular disease risk in autoimmune patients 4.
No tissue expression data available for this gene.