A gene is an instruction to assemble proteins, which are structures essential for the formation and proper functioning of our body. The KDM5B gene gives instructions for the assembling of the KDM5B protein, which plays an important role in the regulation other genes, namely genes involved in neurodevelopment. Bi-allelic* variants in the KDM5B gene can affect the KDM5B protein. They can be diagnosed by genetic testing, usually performed on a blood sample.
*Humans have two set of genes, called chromosomes. Bi-allelic mutations refer to cases where a certain gene (for example, KDM5B) is mutated in both chromosomes.
KDM5B recessive