PXMP3

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PEX2
Identifiers
Aliases PEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3, peroxisomal biogenesis factor 2
External IDs MGI: 107486 HomoloGene: 269 GeneCards: 5828
RNA expression pattern
PBB GE PXMP3 210296 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001172087
NM_000318
NM_001079867
NM_001172086

RefSeq (protein)

NP_000309.1
NP_001073336.1
NP_001165557.1
NP_001165558.1

Location (UCSC) Chr 8: 76.98 – 77 Mb Chr 3: 5.56 – 5.58 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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]

External links[edit]