PEX14

Description

The PEX14 (peroxisomal biogenesis factor 14) is a protein-coding gene located on chromosome 1.

PEX14 is a protein crucial for the import of proteins into peroxisomes. It is a component of the peroxisomal import machinery and interacts with the receptor for proteins containing a peroxisomal targeting signal (PTS1). It also acts as a transcriptional corepressor and interacts with a histone deacetylase. Mutations in the PEX14 gene are associated with Zellweger syndrome.

PEX14 forms a complex with PEX13, which acts as a translocon channel responsible for importing peroxisomal cargo proteins bound to the PEX5 receptor. This complex creates a large import pore that can expand to approximately 9 nm in diameter. The process begins when the PEX5 receptor, carrying cargo proteins, binds to the PEX14 subunit of the PEX13-PEX14 complex in the cytosol. This binding leads to the insertion of the receptor into the peroxisome membrane and the subsequent translocation of the cargo into the peroxisome matrix. PEX14 also directly interacts with tubulin, playing a crucial role in peroxisome movement.

PEX14 is also known as NAPP2, PBD13A, Pex14p, dJ734G22.2.

Associated Diseases

• Zellweger syndrome
• Infantile Refsum disease
• Peroxisome biogenesis disorder 13A (Zellweger)
• Neonatal adrenoleukodystrophy