PEX14

PEX14 is a protein that in humans is encoded by the PEX14 gene. This protein is a key component of the peroxisomal import machinery, which is essential for the transportation of proteins into the peroxisome, a small organelle present in the cell that is involved in various metabolic processes including the breakdown of fatty acids and the detoxification of hydrogen peroxide. The PEX14 protein acts as a docking point for the peroxisomal targeting signal 1 (PTS1) receptor, playing a critical role in the import of PTS1-containing proteins into the peroxisome.

Function

The primary function of PEX14 is to facilitate the import of proteins into the peroxisome. It interacts with other peroxins, proteins involved in peroxisome biogenesis and function, to form a complex that recognizes and transports proteins with a peroxisomal targeting signal into the peroxisome. This process is vital for the maintenance of peroxisomal functions and the overall cellular metabolism.

Clinical Significance

Mutations in the PEX14 gene have been associated with peroxisome biogenesis disorders (PBDs), a group of genetic diseases characterized by the impairment of peroxisome assembly and function. The most common PBD linked to PEX14 mutations is Zellweger syndrome spectrum (ZSS), a severe disorder affecting multiple organ systems and characterized by abnormalities in the brain, liver, and kidneys. Patients with PEX14 mutations may present with symptoms ranging from hypotonia and developmental delays to more severe neurological impairments and liver dysfunction.

Genetic

The PEX14 gene is located on the human chromosome 1p36.22. It spans approximately 17 kb and consists of 12 exons. The gene encodes a protein of 377 amino acids, which is ubiquitously expressed in human tissues, indicating its essential role in cellular metabolism.

Interaction

PEX14 interacts with several other proteins involved in peroxisomal protein import, including PEX5, PEX13, and PEX19. These interactions are crucial for the formation of the import machinery complex and the subsequent translocation of proteins into the peroxisome.

See Also

• Peroxisome
• Peroxisomal biogenesis disorder
• Zellweger syndrome spectrum
• Peroxisomal targeting signal