Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

The NMNAT1 gene encodes an enzyme of involved in nicotinamide metabolism. Mutations cause autosomal recessive Leber congenital amaurosis type 9.

Genetests:

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

Related Diseases:

Leber congenital amaurosis 09
NMNAT1

References:

1.

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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2.

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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3.

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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4.

Fernando FS et. al. (2002) Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.

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5.

Zhang X et. al. (2003) Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

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6.

Keen TJ et. al. (2003) Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.

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7.

Araki T et. al. (2004) Increased nuclear NAD biosynthesis and SIRT1 activation prevent axonal degeneration.

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8.

MacDonald JM et. al. (2006) The Drosophila cell corpse engulfment receptor Draper mediates glial clearance of severed axons.

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9.

Zhai RG et. al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity.

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10.

Zhai RG et. al. (2008) NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration.

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11.

Falk MJ et. al. (2012) NMNAT1 mutations cause Leber congenital amaurosis.

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12.

Perrault I et. al. (2012) Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

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13.

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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Update: Sept. 26, 2018