Nikotinamid-/Nikotinsäuremononukleotid-Adenylyltransferase 1
Das NMNAT1-Gen kodiert ein Enzym des Nikotinamid-Stoffwechsels. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 9.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Keen TJ et al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
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2. |
Zhai RG et al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.
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3. |
Falk MJ et al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.
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4. |
Perrault I et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
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5. |
Koenekoop RK et al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
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6. |
Emanuelli M et al. (2001) Molecular cloning, chromosomal localization, tissue mRNA levels, bacterial expression, and enzymatic properties of human NMN adenylyltransferase.
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7. |
Schweiger M et al. (2001) Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis.
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8. |
Zhou T et al. (2002) Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin.
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9. |
Fernando FS et al. (2002) Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.
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10. |
Zhang X et al. (2003) Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.
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11. |
Araki T et al. (2004) Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration.
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12. |
MacDonald JM et al. (2006) The Drosophila cell corpse engulfment receptor Draper mediates glial clearance of severed axons.
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13. |
Zhai RG et al. (2008) NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration.
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14. |
Orphanet article
Orphanet ID 310793
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15. |
NCBI article
NCBI 64802
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16. |
OMIM.ORG article
Omim 608700
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Update: 14. August 2020