Entrez 9409 | Ensembl ENSG00000121680 | |
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Aliases PEX16, PBD8A, PBD8B, peroxisomal biogenesis factor 16 External IDs MGI: 1338829 HomoloGene: 3537 GeneCards: PEX16 | ||
Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.
Contents
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.
Interactions
PEX16 has been shown to interact with PEX19.
References
PEX16 Wikipedia(Text) CC BY-SA