Literature DB >> 11474176

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

V Iacobazzi1, M Ventura, G Fiermonte, G Prezioso, M Rocchi, F Palmieri.   

Abstract

The deoxynucleotide carrier (DNC) transports deoxynucleotides into mitochondria and is therefore essential for mtDNA synthesis. The human DNC gene (SLC25A19) spans about 16.5 kb and consists of nine exons with the translation start site in exon 4. It is located on chromosome 17q25.3. Three transcripts, which differ in their 5' ends and are generated by alternative splicing, have been identified. Copyright 2001 S. Karger AG, Basel

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Year:  2001        PMID： 11474176     DOI： 10.1159/000056945

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  5 in total

1.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2005-02-28       Impact factor: 11.025

2.  Characterization of the human mitochondrial thiamine pyrophosphate transporter SLC25A19 minimal promoter: a role for NF-Y in regulating basal transcription.

Authors:  Svetlana M Nabokina; Judith E Valle; Hamid M Said
Journal:  Gene       Date:  2013-07-18       Impact factor: 3.688

3.  Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.

Authors:  James J Kohler; Seyed H Hosseini; Elgin Green; Amy Hoying-Brandt; Ioan Cucoranu; Chad P Haase; Rodney Russ; Jaya Srivastava; Kristopher Ivey; Tomika Ludaway; Victor Kapoor; Allison Abuin; Alexsey Shapoval; Robert Santoianni; Ann Saada; Orly Elpeleg; William Lewis
Journal:  Cardiovasc Toxicol       Date:  2008-04-30       Impact factor: 3.231

4.  The plant mitochondrial carrier family: functional and evolutionary aspects.

Authors:  Ilka Haferkamp; Stephan Schmitz-Esser
Journal:  Front Plant Sci       Date:  2012-01-18       Impact factor: 5.753

Review 5.  Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Authors:  Bahadir M Samur; Gülsüm Gümüş; Mehmet Canpolat; Hakan Gümüş; Hüseyin Per; Ahmet Okay Cağlayan
Journal:  Clin Dysmorphol       Date:  2022-01-31       Impact factor: 0.884
  5 in total

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