Schwannomatosis is caused by a mutation on the SMARCB1 gene. This gene is located near the NF2 tumor suppressor gene leading to the thought that schwannomatosis and NF2 were the same condition. The two conditions show different mutations on two different genes. The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function is not completely understood. The complex including SMARCB1 plays a role in tumor suppression. The mutation of the SMARCB1 gene causes a loss of function in the complex leading to the formation of tumors indicative of schwannomatosis.
Schwannomatosis is caused by a mutation on the SMARCB1 gene This gene is located near the NF2 tumor suppressor gene leading to the thought that schwannomatosis and NF2 were the same condition The two conditions show different mutations on two different genes The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function is not completely understood The complex including SMARCB1 plays a role in tumor suppression The mutation of the SMARCB1 gene causes a loss of function in the complex leading to the formation of tumors indicative of schwannomatosis