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peroxisomal biogenesis factor 1

This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. [provided by RefSeq]

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Data Correlations | 1,131 studies

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Individual Studies
  • OMIM - Congenital disorder

    score: 100100 | Homo sapiens Homo sapiens | Mutations/Phenotypic   Mutations/Phenotypic

    This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories.

    Source: NextBio Library/Mutation and Phenotypic data

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Thought leaders and organizations working on research involving PEX1.

  • Yukio Fujiki
  • S J Gould
  • Denis I Crane
  • Barbara C Paton
  • Y Fujiki
  • Johns Hopkins University School of Medicine
  • Griffith University
  • Kyushu University Graduate School
  • Ruhr-Universität Bochum
  • Yokohama City University

Community

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