PEX16

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.[1][2]

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.[2]

Interactions

PEX16 has been shown to interact with PEX19.[3]

References

  1. South ST, Gould SJ (Mar 1999). "Peroxisome Synthesis in the Absence of Preexisting Peroxisomes". J Cell Biol. 144 (2): 255–66. doi:10.1083/jcb.144.2.255. PMC 2132891. PMID 9922452.
  2. 2.0 2.1 "Entrez Gene: PEX16 peroxisomal biogenesis factor 16".
  3. Fransen, M; Wylin T; Brees C; Mannaerts G P; Van Veldhoven P P (Jul 2001). "Human Pex19p Binds Peroxisomal Integral Membrane Proteins at Regions Distinct from Their Sorting Sequences". Mol. Cell. Biol. United States. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. ISSN 0270-7306. PMC 87101. PMID 11390669.

Further reading

External links