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PEX16

From Wikipedia, the free encyclopedia
PEX16
Identifiers
AliasesPEX16, PBD8A, PBD8B, peroxisomal biogenesis factor 16
External IDsOMIM: 603360; MGI: 1338829; HomoloGene: 3537; GeneCards: PEX16; OMA:PEX16 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004813
NM_057174

NM_145122

RefSeq (protein)

NP_004804
NP_476515

NP_660104

Location (UCSC)Chr 11: 45.91 – 45.92 MbChr 2: 92.21 – 92.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peroxisomal membrane protein PEX16 is a protein that in humans is encoded by the PEX16 gene.[5][6]

Function

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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]

Interactions

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PEX16 has been shown to interact with PEX19.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121680Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027222Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ a b "Entrez Gene: PEX16 peroxisomal biogenesis factor 16".
  7. ^ 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. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. ISSN 0270-7306. PMC 87101. PMID 11390669.

Further reading

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