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The protein encoded by the TRPC6 gene creates receptor-activated cation permeant calcium channels in the cell membrane. Isoform 1 is 931 amino acids in length and is approximately 106 kDa, while isoform 2 is 815 amino acids in lenth at around 93 kDA. Isoform 3 is 876 amino acids long and is just over 100 kDA. Focal segmental glomerulosclerosis 2 (FSGS2) is caused by deficits in the TRPC6 gene. This gene has been linked to diseases such as cystic fibrosis, gigantism, hypertension, kidney disease, glomerulosclerosis, pyloric stenosis, diencephalic neoplasm, premature ovarian failure, and hepatopulmonary syndrome. The TRPC6 gene interacts with MX1, ORAI1, NPHS1, NPHS2, and FYN genes in pathways that monitor sodium as well as calcium channels, EPO signaling pathway, G alpha (q) signaling events, signal transduction, and platelet homeostasis.
