PEX16
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.[5][6]
External IDsOMIM: 603360; MGI: 1338829; HomoloGene: 3537; GeneCards: PEX16; OMA:PEX16 - orthologs
Function
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described.[6]
