PEX11C

PEX11C is a protein-coding gene located on chromosome 11 in humans. It is a member of the PEX (peroxisome biogenesis) family of genes, which are essential for the formation and function of peroxisomes, organelles involved in various metabolic processes such as fatty acid oxidation, ether lipid synthesis, and detoxification of hydrogen peroxide.

The PEX11C gene encodes a protein that plays a crucial role in the biogenesis of peroxisomes. It is involved in the recruitment of PEX5, a key component of the peroxisomal membrane, to the peroxisomal membrane. This process is essential for the proper assembly and function of peroxisomes.

Mutations in the PEX11C gene have been associated with several genetic disorders, including Zellweger syndrome (ZS) and infantile Refsum disease (IRD). These disorders are characterized by a range of symptoms, including developmental delay, seizures, and neurological abnormalities. The severity of the symptoms can vary depending on the specific mutation and its impact on the function of the PEX11C protein.

Research on the PEX11C gene and its associated disorders continues to advance our understanding of peroxisomal biogenesis and the role of peroxisomes in human health and disease. Ongoing studies aim to identify new therapeutic targets and develop effective treatments for these genetic disorders.