PEX26
PEX26 PEX26 is a gene that encodes a protein involved in peroxisome biogenesis. Mutations in the PEX26 gene can lead to peroxisome biogenesis disorders, which are a group of rare genetic disorders characterized by the impaired formation and function of peroxisomes.
Function[edit | edit source]
The PEX26 protein plays a crucial role in the import of proteins into peroxisomes and the biogenesis of these organelles. It is involved in the targeting and insertion of peroxisomal membrane proteins.
Clinical Significance[edit | edit source]
Mutations in the PEX26 gene can result in peroxisome biogenesis disorders, such as Zellweger syndrome spectrum disorders. These disorders are characterized by a range of symptoms including developmental delays, neurological abnormalities, and liver dysfunction.
Research[edit | edit source]
Research on PEX26 and peroxisome biogenesis disorders is ongoing, with a focus on understanding the molecular mechanisms underlying these conditions and developing potential therapeutic interventions.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD