PEX16

PEX16

A gene on chromosome 11p11.2 that encodes an integral peroxisomal membrane protein that structurally and functionally restores peroxisomes, suggesting that PEX16 plays a role in peroxisome organisation and biogenesis.

Molecular pathology
Inactivating nonsense mutations of PEX16 may be seen in the complementation group 9 form of Zellweger syndrome.
References in periodicals archive ?
the homology search by screening the expressed sequence tag database using yeast PEX genes, successfully made it feasible to isolate human orthologue genes responsible for PBDs: (22), (24), (34) PEX1, (55), (56) PEX3, (57) PEX5, (58) PEX6, (59) PEX7, (60)-(62) PEX10, (63),(64) PEX12, (65) PEX13, (66) PEX14, (67) and PEX16.
Defects of PEX3, PEX16 and PEX19 encoding membrane-assembly peroxins lead to absence of ghosts and cause ZS phenotypes.
1998) Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.
1997) Enlarged peroxisomes are present in oleic acid-grown Yarrowia lipolytica overexpressing the PEX16 gene encoding an intraperoxisomal peripheral membrane peroxin.
2015) Multiple domains in PEX16 mediate its trafficking and recruitment of peroxisomal proteins to the ER.
2014) PEX16 contributes to peroxisome maintenance by constantly trafficking PEX3 via the ER.