Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial ornithine aminotransferase

The OAT gene encodes a mitochondrial matrix enzyme that catalyzes thansamination of ornithin to glutamin. Mutations cause autosomal recessive ornithine aminotransferase deficiency which can be associated with ornithinemia and presents with poor night vision, which slowly progresses to total blindness.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Ornithine aminotransferase deficiency
OAT

References:

1.

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

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2.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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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9.

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

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10.

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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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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

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18.

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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19.

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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20.

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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21.

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

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22.

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

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23.

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

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24.

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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25.

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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26.

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

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27.

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

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28.

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

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29.

Orphanet article

Orphanet ID 123971 [^]
30.

NCBI article

NCBI 4942 [^]
31.

OMIM.ORG article

Omim 613349 [^]
Update: April 29, 2019