disease:Defects in TRPC6 are the cause of focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]. FSGS2 is an autosomal dominant disease characterized by increased urinary protein excretion (proteinuria) and decreasing kidney function (nephrotic syndrome). Renal insufficiency often progresses to end-stage renal disease (ESRD) (also known as end-stage renal failure), a highly morbid state requiring either dialysis therapy or kidney transplantation.,function:Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C. Seems not to be activated by intracellular calcium store depletion.,similarity:Belongs to the transient receptor family. STrpC subfamily.,similarity:Contains 4 ANK repeats.,subunit:Interacts with MX1 and RNF24.,tissue specificity:Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.,
Cell membrane ; Multi-pass membrane protein .
Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.