What is NAA10?

NAA10 is one of the body’s essential genes involved in the modification of proteins through a process called "amino-terminal acetylation", which can have a significant impact on many developmental processes, including in the brain and the heart.

The human NAA10 gene is located at chromosome Xq28, as it’s on the long arm of X chromosome at position 28. Therefore NAA10 is an X-linked condition. An individual's DNA consists of 46 chromosomes (23 pairs - 1 set from each parent) and on each chromosome are thousands of genes. NAA10 is just one gene out of many thousand found on the X chromosome.

Females have 2 X chromosomes for their sex chromosomes therefore carry two copies of the NAA10 gene. If your daughter has a mutation to NAA10 then it means in each of their cells one of their NAA10 genes will be healthy and the other will be mutated. One of these will be being used (switched on) and the other will be inactive (switched off), this ratio is referred to as a skewing level and will be a different ratio in the different tissues and organs around the body.

Boys only have 1 X chromosome and their other sex chromosome is a Y. Therefore a mutation to the NAA10 gene in a boy will be present and active in every cell. This is why boys with NAA10 mutations generally have a much more severe and sadly fatal prognosis.

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