PXMP3

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Peroxisomal biogenesis factor 2
Identifiers
Symbols PEX2 ; PAF1; PBD5A; PBD5B; PMP3; PMP35; PXMP3; RNF72; ZWS3
External IDs OMIM170993 MGI107486 HomoloGene269 GeneCards: PEX2 Gene
RNA expression pattern
PBB GE PXMP3 210296 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5828 19302
Ensembl ENSG00000164751 ENSMUSG00000040374
UniProt P28328 P55098
RefSeq (mRNA) NM_000318 NM_001163301
RefSeq (protein) NP_000309 NP_001156773
Location (UCSC) Chr 8:
77.89 – 77.91 Mb
Chr 3:
5.56 – 5.58 Mb
PubMed search [1] [2]

Peroxisome assembly factor 1 is a protein that in humans is encoded by the PXMP3 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[edit]

  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. ^ a b "Entrez Gene: PXMP3 peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)". 

Further reading[edit]

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