Peroxisomal biogenesis factor 2

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

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RefSeq (protein)

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Location (UCSC)n/an/a
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Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene.[1][2]

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein.[2]

References

  1. Shimozawa N, Tsukamoto T, Suzuki Y, Orii T, Shirayoshi Y, Mori T, Fujiki Y (Apr 1992). "A human gene responsible for Zellweger syndrome that affects peroxisome assembly". Science. 255 (5048): 1132–4. doi:10.1126/science.1546315. PMID 1546315.
  2. 2.0 2.1 "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)".

Further reading

External links