ATMEM16Jvariant leads to dysregulated cytosolic calcium which may lead to renal disease

Abstract

Exaggerated immune response is inhibited by extra-and intracellular mechanisms. 1 A genetic region encoding single immunoglobulin interleukin-1 related receptor (SIGIRR), plakophilin 3 (PKP3), and transmembrane 16 protein member J, (TMEM16J, anoctamin 9) was identified as an essential negative regulator of immune response. 2,3 Common single nucleotide polymorphisms (SNPs) in the SIGIRR-PKP3-TMEM16J gene region are associated with tuberculosis, pneumonia, enterocolitis, and kidney graft rejection, and studies of SIGIRR-deficient mice suggest a