CD81
Gene name: CD81 moleculeOMIM ID: 186845
Chromosome location: 11p15.5
Mutations
| Disease/Phenotype | Immunodeficiency, common variable, 6 |
|---|---|
| Reference transcript | NM_004356.3 |
| DNA Change | c.561+1G>A |
| A.A. Change | Frameshift |
| Exon/Intron | intron 6 |
| Mutation Type | substitution |
| Reference | van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F, Ferster A, Kuo CC, Levy S, van Dongen JJ, van der Burg M.CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J Clin Invest. 2010 Apr;120(4):1265-74. |