Molecular characteristics

BRAT1 related disorder is transmitted in an autosomal recessive manner, which means both copies of the gene need to be defective in order for the disorder to result. Types of genetic misspellings reported with BRAT1 disorder have included so-called frameshift changes, missense changes, and splice site changes. These alterations can affect how the protein forms or functions.

Decreased function of the BRAT1 protein is likely the cause of the disorder. The function of this protein, especially as it relates to brain development, is still being understood. One of its roles is interacting with other proteins, including two proteins called BRCA1 and ATM. Together, this complex of proteins may send signals to cells as a response to damage to DNA. Another role of BRAT1 is to regulate the growth and life cycle of cells. Pathological studies have shown that defects in BRAT1 can lead to loss of nerve cells and scar tissue in certain parts of the brain.