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Mitochondriale Ornithin-Aminotransferase

Das OAT-Gen kodiert ein Protein, welches in der Matrix der Mitochondrien die Transaminierung Ornithin zu Glutamat synthetisiert. Mutationen führen zum autosomal rezessiven Ornithin-Aminotransferase-Mangel, der mit einer Ornithinämie einhergehen kann und sich in einer zunehmenden Nachblindheit, die bis zur völligen Erblindung führen kann, äußert.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Ornithine-Aminotransferase-Mangel
OAT

Referenzen:

1.

Brody LC et al. (1992) Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

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2.

Passador-Gurgel G et al. (2007) Quantitative trait transcripts for nicotine resistance in Drosophila melanogaster.

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3.

Geraghty MT et al. (1993) Isolation and characterization of an ornithine aminotransferase-related sequence (OATL3) mapping to 10q26.

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4.

Dougherty KM et al. (1993) Expression and processing of human ornithine-delta-aminotransferase in Saccharomyces cerevisiae.

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5.

Michaud J et al. (1995) Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

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6.

Kobayashi T et al. (1995) A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor.

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7.

Ramesh V et al. (1986) Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.

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8.

Inana G et al. (1986) Molecular cloning of human ornithine aminotransferase mRNA.

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9.

Inana G et al. (1988) Expression defect of ornithine aminotransferase gene in gyrate atrophy.

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10.

Ramesh V et al. (1988) Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

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11.

Wu J et al. (1988) The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.

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12.

O'Donnell JJ et al. (1988) Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.

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13.

Mitchell GA et al. (1988) Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene.

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14.

Hotta Y et al. (1989) Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.

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15.

Inana G et al. (1989) Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.

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16.

Dietz HC et al. (1993) The skipping of constitutive exons in vivo induced by nonsense mutations.

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17.

Ramesh V et al. (1988) The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.

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18.

Mitchell GA et al. (1988) An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.

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19.

Barrett DJ et al. (1987) Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.

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20.

Orita M et al. (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

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21.

Mashima Y et al. (1992) Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

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22.

Michaud J et al. (1992) Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

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23.

Akaki Y et al. (1992) A deletion in the ornithine aminotransferase gene in gyrate atrophy.

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24.

Mitchell GA et al. (1991) Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

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25.

McClatchey AI et al. (1990) Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

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26.

Kaufman DL et al. (1990) Detection of point mutations associated with genetic diseases by an exon scanning technique.

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27.

Mitchell GA et al. (1989) At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

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28.

Ramesh V et al. (1987) Localization of the ornithine aminotransferase gene and related sequences on two human chromosomes.

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29.

Orphanet article

Orphanet ID 123971 external link
30.

NCBI article

NCBI 4942 external link
31.

OMIM.ORG article

Omim 613349 external link
Update: 14. August 2020
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