Abstract:
: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 E1alpha subunit or E1beta 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_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Ling M,McEachern G,Seyda A,MacKay N,Scherer SW,Bratinova S,Beatty B,Giovannucci-Uzielli ML,Robinson BHdoi
10.1093/hmg/7.3.501subject
Has Abstractpub_date
1998-03-01 00:00:00pages
501-5issue
3eissn
0964-6906issn
1460-2083pii
ddb045journal_volume
7pub_type
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