RBM10

Molecular characteristics

TARP syndrome is caused by changes to the RBM10 gene, which can either occur for the first time in the affected individual (de novo) or inherited from an unaffected mother. Originally the types of changes identified were those thought to lead to loss of the RBM10 protein, but we now suspect other types of changes may also be associated with some of the health issues described above. RBM10 stands for RNA binding motif 10 and is a protein that is expressed in many tissues in the body and is important to the regulation of other genes through a process called RNA splicing.