Journal Article

Mutations in PEX10 Is the Cause of Zellweger Peroxisome Deficiency Syndrome of Complementation Group B

Kanji Okumoto, Ryota Itoh, Nobuyuki Shimozawa, Yasuyuki Suzuki, Shigehiko Tamura, Naomi Kondo and Yukio Fujiki

in Human Molecular Genetics

Volume 7, issue 9, pages 1399-1405
Published in print September 1998 | ISSN: 0964-6906
Published online September 1998 | e-ISSN: 1460-2083 | DOI: https://dx.doi.org/10.1093/hmg/7.9.1399
Mutations in PEX10 Is the Cause of Zellweger Peroxisome Deficiency Syndrome of Complementation Group B

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Peroxisome biogenesis disorders (PBD), such as Zellweger syndrome, are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as a malfunction of the peroxisomes, where at least 10 genotypes have been reported. We have isolated a human PEX10 cDNA (HsPEX10) by an expressed sequence tag homology search on a human DNA database using yeast PEX10 from Hansenula polymorpha, followed by screening of a human liver cDNA library. This cDNA encodes a peroxisomal protein (a peroxin Pex10p) comprising 326 amino acids, with two putative transmembrane segments and a C3HC4 zinc...

Journal Article.  4383 words.  Illustrated.

Subjects: Genetics and Genomics

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