PEX16
Description
The PEX16 (peroxisomal biogenesis factor 16) is a protein-coding gene located on chromosome 11.
PEX16 is a protein encoded by the PEX16 gene in humans. It is an integral peroxisomal membrane protein. Mutations in this gene can cause Zellweger syndrome, a genetic disorder that affects peroxisome function. PEX16 is involved in peroxisome organization and biogenesis, and its expression can restore the formation of new peroxisomes. Alternative splicing of the PEX16 gene results in two different variants of the protein. PEX16 interacts with the protein PEX19.
PEX16 is also known as PBD8A, PBD8B.
Associated Diseases
- Neonatal adrenoleukodystrophy
- Infantile Refsum disease
- Peroxisome biogenesis disorder 8B
- Peroxisome biogenesis disorder 8A (Zellweger)
- Zellweger syndrome
