The HUWE-1 is a gene located on the X chromosome. It holds the chemical instructions (DNA) to create a protein called E3 ubiquitin-protein ligase. This protein is present in all cells in the human body, meaning that any variations or mutations in the HUWE1 gene can have significant effects throughout the body.

You can find out more about genes, chromosomes and variants/mutations at Genetic Alliance UK.

Understanding of the role of the HUWE1 gene is still developing. Research indicates it has a role in controlling the release of neurotransmitters and in the formation of neurons in the developing brain. It has also been associated with intellectual disability as well as a range of other conditions.

A gene variant is a change in the DNA sequence of a gene. Variants in the HUWE1 gene can affect how the HUWE1 protein functions, potentially disrupting important processes in the body, particularly in the developing brain. Not all variants cause a disorder, and the effects can vary significantly from person to person. Researchers are still working to understand how different HUWE1 variants affect development and health.

HUWE1 variants are X-linked, meaning that the faulty HUWE1 gene is on the X chromosome. Most HUWE1 variants are new in the child, but in some cases they are inherited. Understanding inheritance of any genetic condition can be complicated and should always be discussed with a geneticist or genetic counsellor.