PMID- 10234612
OWN - NLM
STAT- MEDLINE
DCOM- 19990729
LR  - 20190831
IS  - 0141-8955 (Print)
IS  - 0141-8955 (Linking)
VI  - 22
IP  - 2
DP  - 1999 Apr
TI  - The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial
      complex I in human pathology.
PG  - 163-73
AB  - 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.
FAU - Triepels, R
AU  - Triepels R
AD  - Nijmegen Center for Mitochondrial Disorders, University Children's Hospital,
      Department of Pediatrics, The Netherlands.
FAU - Smeitink, J
AU  - Smeitink J
FAU - Loeffen, J
AU  - Loeffen J
FAU - Smeets, R
AU  - Smeets R
FAU - Buskens, C
AU  - Buskens C
FAU - Trijbels, F
AU  - Trijbels F
FAU - van den Heuvel, L
AU  - van den Heuvel L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Inherit Metab Dis
JT  - Journal of inherited metabolic disease
JID - 7910918
RN  - 0 (Acyl Carrier Protein)
RN  - 0 (DNA, Complementary)
RN  - EC 1.6.5.2 (NAD(P)H Dehydrogenase (Quinone))
SB  - IM
MH  - Acyl Carrier Protein/*genetics
MH  - Adult
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Cattle
MH  - Cell Nucleus
MH  - DNA, Complementary
MH  - Humans
MH  - *Mitochondria
MH  - Molecular Sequence Data
MH  - Mutation
MH  - NAD(P)H Dehydrogenase (Quinone)/*genetics
MH  - Sequence Analysis, DNA
MH  - Tissue Distribution
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - 10.1023/a:1005402020569 [doi]
PST - ppublish
SO  - J Inherit Metab Dis. 1999 Apr;22(2):163-73. doi: 10.1023/a:1005402020569.