A TMEM16J variant leads to dysregulated cytosolic calcium which may lead to renal disease

URN to cite this document:: urn:nbn:de:bvb:355-epub-534424
DOI to cite this document:: 10.5283/epub.53442

Schreiber, Rainer ; Talbi, Khaoula ; Ousingsawat, Jiraporn

; Kunzelmann, Karl

License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 20 Dec 2022 06:30

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Abstract

SIGIRR (single immunoglobulin IL-1 related receptor), PKP3 (plakophilin 3), and TMEM16J (anoctamin 9), a putative calcium-activated ion channel and phospholipid scramblase, control the immune response and the extent of inflammation. Variants of SIGIRR/PKP3/TMEM16J lead to severe inflammatory diseases such as pneumonia, enterocolitis, and kidney graft rejection. Meta-analysis of genome-wide ...