Ornithine carbamoyltransferase
The OTC gene encodes a mitochondrial matrix enzyme. Loss-of-function mutations are responsible for ornithine transcarbamylase deficiency, an x-linked recessive disorder characterized by hyperammonemia.
Genetests:
Related Diseases:
References:
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
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51. |
NCBI article
NCBI 5009
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52. |
OMIM.ORG article
Omim 300461
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53. |
Wikipedia article
Wikipedia EN (Ornithine_transcarbamylase)
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Update: Aug. 14, 2020