The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology
| Autor: | L.P.W.J. van den Heuvel, Rob J. E. M. Smeets, C. A. F. Buskens, R.H. Triepels, Jan A.M. Smeitink, F.J.M. Trijbels, Jan Loeffen |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Moleculair genetisch onderzoek van mitochondriopathieën DNA Complementary Protein subunit Molecular Sequence Data Biology chemistry.chemical_compound Complementary DNA Acyl Carrier Protein NAD(P)H Dehydrogenase (Quinone) Genetics Animals Humans Tissue Distribution Amino Acid Sequence Peptide sequence Genetics (clinical) Cell Nucleus Molecular genetic studies of mitochondriocytopathies Base Sequence Sequence Analysis DNA Molecular biology Mitochondria Open reading frame Acyl carrier protein Mitochondrial respiratory chain chemistry Biochemistry Mutation biology.protein Cattle Phosphopantetheine Binding domain |
| Zdroj: | Journal of Inherited Metabolic Disease, 22, pp. 163-173 Journal of Inherited Metabolic Disease, 22, 163-173 |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/A:1005402020569 |
| Popis: | We present the cDNA sequence of the human mitochondrial acyl carrier protein NDUFAB1, a nuclear-encoded subunit of complex I of the mitochondrial respiratory chain. We obtained the NDUFAB1 cDNA using the cDNA sequence of the bovine mitochondrial acyl carrier protein. The human cDNA contains two putative translation initiation codons. The human NDUFAB1 protein contains a phosphopantetheine attachment site (DLGLDSLDQVEIIMAM), unique for acyl carrier proteins, and an EF-hand calcium binding domain (DIDAEKLMCPQEI). Transcripts of this gene are found in a wide range of human tissues. The highests expression levels were observed, in descending order, in adult heart, skeletal muscle and fetal heart. We subjected NDUFAB1 fibroblast cDNA of 20 patients with an isolated enzymatic complex I deficiency to mutational detection. No mutations in the NDUFAB1 open reading frame were observed. Future studies will answer whether mutations in the NDUFAB1 promoter or transcription elements are responsible for the observed complex I deficiency. |
| Databáze: | OpenAIRE |
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