title: The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology.
abstract: 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.
authors.affiliation: Nijmegen Center for Mitochondrial Disorders, University Children's Hospital, Department of Pediatrics, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Triepels
authors.forename: J
authors.initials: J
authors.lastname: Smeitink
authors.forename: J
authors.initials: J
authors.lastname: Loeffen
authors.forename: R
authors.initials: R
authors.lastname: Smeets
authors.forename: C
authors.initials: C
authors.lastname: Buskens
authors.forename: F
authors.initials: F
authors.lastname: Trijbels
authors.forename: L
authors.initials: L
authors.lastname: van den Heuvel
mesh_terms: D000213:Acyl Carrier Protein / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D002467:Cell Nucleus; D018076:DNA, Complementary; D006801:Humans; D008928:Mitochondria; D008969:Molecular Sequence Data; D009154:Mutation; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014018:Tissue Distribution
chemical_list: D000213:Acyl Carrier Protein; D018076:DNA, Complementary; D016660:NAD(P)H Dehydrogenase (Quinone)