Journal Article

Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency

Mingfu Ling, Gillian McEachern, Agnieszka Seyda, Nevi MacKay, Stephen W. Scherer, Sacha Bratinova, Barbara Beatty, Maria Luisa Giovannucci-Uzielli and Brian H. Robinson

in Human Molecular Genetics

Volume 7, issue 3, pages 501-505
Published in print March 1998 | ISSN: 0964-6906
Published online March 1998 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/7.3.501
Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency

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While the presence of a lipoyl-containing protein (protein X) separate from lipoyl transacetylase in the pyruvate dehydrogenase complex (PDC) has been known for some time, until recently only the cDNA for the yeast enzyme has been cloned. We have cloned, sequenced and characterized the cDNA encoding the human protein X and localized the protein X gene to chromosome 11p13. We also report here a new case of protein X deficiency identified immunologically, with decreased activity of PDC and without mutations in the E1α subunit or E1β subunit. We report that the cDNA and gene of this patient for protein X has a homozygous 4 bp deletion, specifically in the putative mitochondrial targeting signal sequence which results in a premature stop codon. This is the first documented case of a molecular defect in pyruvate dehydrogenase protein X.

Journal Article.  3514 words.  Illustrated.

Subjects: Genetics and Genomics

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