Molecular Characteristics for Families

The RNF113A gene and protein are relatively small in relative to other genes and proteins but are present in all body tissues. There is very limited information, but so far affected males have had gene changes that are predicted to stop the gene working rather than upregulate it. Studies in a animals have suggested a role for the gene in brain cell development. Other investigations have found that the gene and protein are needed for normal repair of DNA and correctly converting genes into proteins.