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They also carry out important functions in both the CNS and PNS. Schwann cells express the ERM proteins and merlin, but the absence of merlin alone results in NF2-related schwannomas, indicating that merlin has a distinct function in these cells. In neurons, the ERM proteins regulate key aspects of actin-dependent growth-cone motility.
Normal Function. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle. Cardiac troponin I is one of three proteins that make up the troponin protein complex in cardiac muscle cells. The troponin complex is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments.