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Ornithincarbamoyltransferase

Das OTC-Gen kodiert die Ornithincarbamoyltransferase, ein Matrixenzym der Mitochondrien. Funktionsmindernde Mutationen sind für die x-chromosomal rezessive Erkrankung des OTC-Mangels verantwortlich.

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
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Ornithincarbamoyltransferase-Mangel
OTC

Referenzen:

1.

Lindgren V et al. (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus.

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2.

Hata A et al. (1991) A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

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3.

Legius E et al. (1990) Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

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4.

Bonaïti-Pellié C et al. (1990) A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

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5.

Finkelstein JE et al. (1990) Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.

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6.

Lee JT et al. (1989) An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.

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7.

Hata A et al. (1989) Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

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8.

Hata A et al. (1988) Structure of the human ornithine transcarbamylase gene.

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9.

Cotton RG et al. (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

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10.

Hata A et al. (1986) Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.

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11.

Horwich AL et al. (1985) A leader peptide is sufficient to direct mitochondrial import of a chimeric protein.

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12.

Horwich AL et al. (1986) Targeting of pre-ornithine transcarbamylase to mitochondria: definition of critical regions and residues in the leader peptide.

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13.

Horwich AL et al. (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

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14.

Grompe M et al. (1991) Improved molecular diagnostics for ornithine transcarbamylase deficiency.

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15.

Horwich AL et al. (1983) Molecular cloning of the cDNA coding for rat ornithine transcarbamoylase.

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16.

Tuchman M et al. (1995) Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.

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17.

García-Pérez MA et al. (1995) Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.

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18.

Oppliger Leibundgut EO et al. (1995) Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.

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19.

Tuchman M et al. (1994) Seven new mutations in the human ornithine transcarbamylase gene.

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20.

Tuchman M et al. (1995) The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

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21.

Gilbert-Dussardier B et al. (1996) Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.

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22.

Matsuda I et al. (1996) Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

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23.

Oppliger Leibundgut EO et al. (1996) Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.

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24.

Komaki S et al. (1997) Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency.

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25.

Oppliger Leibundgut E et al. (1997) Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

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26.

Strautnieks S et al. (1991) Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

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27.

Bowling F et al. (1999) Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.

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28.

Maddalena A et al. (1988) Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

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29.

Rozen R et al. () Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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30.

Fox JE et al. (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

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31.

Ohtake A et al. (1986) Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

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32.

Maddalena A et al. (1988) Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

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33.

Wareham KA et al. () Age related reactivation of an X-linked gene.

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34.

Veres G et al. (1987) The molecular basis of the sparse fur mouse mutation.

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35.

DeMars R et al. (1976) Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

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36.

Hoogenraad N et al. (1983) Immunological evidence for an ornithine transcarbamylase lesion resulting in the formation of enzyme with smaller protein subunits.

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37.

None (1993) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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38.

Tuchman M et al. (1996) Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.

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39.

Yorifuji T et al. (1998) X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.

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40.

Genet S et al. (2000) Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

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41.

Ploechl E et al. (2001) Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon.

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42.

Mavinakere M et al. (2001) The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.

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43.

Tuchman M et al. (2002) Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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44.

Feldmann D et al. (1992) Site specific screening for point mutations in ornithine transcarbamylase deficiency.

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45.

Tuchman M et al. (1992) Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.

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46.

Suess PJ et al. (1992) Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency.

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47.

Yamaguchi S et al. (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

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48.

Hentzen D et al. (1991) Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.

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49.

Carstens RP et al. (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

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50.

Orphanet article

Orphanet ID 124033 external link
51.

NCBI article

NCBI 5009 external link
52.

OMIM.ORG article

Omim 300461 external link
53.

Wikipedia Artikel

Wikipedia DE (Ornithin-Transcarbamylase) external link
Update: 14. August 2020
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