NEXMIFproduces the protein called “The Neurite EXtension and MIgration Factor”. This protein is important for brain development and function. The NEXMIFgene is located on the X-chromosome.
We know approximately 60 different NEXMIFvariants that are disease causing (also referred to as “mutations”). All known mutations cause the gene to produce no or a decreased amount of protein. Male patients (who have only one X-chromosome) will therefore have no or a decreased amount of functioning NEXMIF-protein. Females (who have two X-chromosomes) on the other hand, can have anything from a normal level of the protein to having none; depending on whether it is the normal or the mutated gene that is activated.
NEXMIF