PEX2
Identifiers
AliasesPEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3, peroxisomal biogenesis factor 2
External IDsOMIM: 170993 MGI: 107486 HomoloGene: 269 GeneCards: PEX2
Orthologs
SpeciesHumanMouse
Entrez

5828

19302

Ensembl

ENSG00000164751

ENSMUSG00000040374

UniProt

P28328

P55098

RefSeq (mRNA)

NM_001172087
NM_000318
NM_001079867
NM_001172086

RefSeq (protein)

NP_000309
NP_001073336
NP_001165557
NP_001165558

Location (UCSC)Chr 8: 76.98 – 77 MbChr 3: 5.63 – 5.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the PEX2 gene.[5][6]

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.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000164751 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040374 - Ensembl, 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. 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. Bibcode:1992Sci...255.1132S. doi:10.1126/science.1546315. PMID 1546315.
  6. 1 2 "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)".

Further reading

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