C18orf32

Molecular characteristics

The C18orf32 mutation seen in GPIBD25 is transmitted in an autosomal recessive manner which means that both copies of the gene must carry the mutations for the disease to occur. This mutation alters the function of C18orf32. When mutated, it can no longer help in the formation of GPI-anchored proteins. These proteins are important for the development and functioning of the brain.