The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6

N. Matsumoto, S. Tamura, A. Moser, H. W. Moser, N. Braverman, Y. Suzuki, N. Shimozawa, N. Kondo, Y. Fujiki

研究成果: Contribution to journalArticle査読

29 被引用数 (Scopus)

抄録

Human genetic peroxisomal biogenesis disorders (PBDs), such as Zellweger syndrome, comprise 13 different complementation groups (CGs). Eleven peroxin genes, termed PEXs, responsible for PBDs have been identified, whereas pathogenic genes for PBDs of 2CGs, CG-A (the same CG as CG8 in the United States and Europe) and CG6, remained unidentified. We herein provide several lines of novel evidence indicating that PEX6, the pathogenic gene for CG4, is impaired in PBD of CG6. Expression of PEX6 restored peroxisome assembly in fibroblasts from a CG6 PBD patient. This patient was a compound heterozygote for PEX6 gene alleles. Accordingly, by merging CG6 with CG4, human PBDs are now classified into 12 CGs.

本文言語英語
ページ(範囲)273-277
ページ数5
ジャーナルJournal of Human Genetics
46
5
DOI
出版ステータス出版済み - 2001

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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