TRPC6 Cation Channel. TRPC6 . Transient Receptor Potential Cation Channel Subfamily C, Member 6 . Cation Channel, TRPC6 . Channel, TRPC6 Cation . A non-selective, calcium permeant TRPC cation channel that contains four ANKYRIN REPEATS and is activated by DIACYLGLYCEROL independently of PROTEIN KINASE C. It is expressed in placenta, lung, spleen, ovary and the small intestine, as well as by PODOCYTES in the kidney glomerulus. Mutations in the TRPC6 gene are associated with FOCAL SEGMENTAL GLOMERULOSCLEROSIS type 2. . 0.41
Langer-Giedion Syndrome. TRPSII . Tricho-Rhino-Phalangeal Syndrome Type II . Trichorhinophalangeal Syndrome Type 2 . Trichorhinophalangeal Syndrome with Exostoses . Trichorhinophalangeal Syndrome, Type II . Acrodysplasia Vs . Giedion Langer Syndrome . Langer Giedion Syndrome . Syndrome, Giedion-Langer . Syndrome, Langer-Giedion . Tricho Rhino Phalangeal Syndrome Type II . Acrodysplasia V . Giedion-Langer Syndrome . Trichorhinophalangeal Syndrome Type II . Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). . 0.40
