Investigating the localisation of PEX10 in-line with patient mutations (infocus #81 March 2026)

Peroxisomes are essential organelles found in all eukaryotic cells. They are membrane bound compartments that play a critical role in lipid metabolism and detoxifying toxic products, such as hydrogen peroxide.

DOI: 10.22443/rms.inf.1.308

Peroxisome Biogenesis Disorders (PBDs) are inherited metabolic diseases that affect children and are caused by a disruption in function of peroxisomes. There is a current lack of understanding surrounding the contribution of individual mutations and how this results in clinical symptoms for patients, so this project investigated a compound mutation in the PEX10 gene of a patient with PBD. PEX10 is a peroxin that resides on the peroxisomal membrane and is part of the ubiquitin ligase complex (PEX2, PEX10, PEX12), which is involved in protein import into peroxisomes.

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