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Article

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.

Experimental eye research - 1 Aug 2018

Eblimit Aiden, Zaneveld Smriti Agrawal, Liu Wei, Thomas Kandace, Wang Keqing, Li Yumei, Mardon Graeme, Chen Rui

Abstract excerpt

NMNAT1 (nicotinamide mononucleotide adenylyltransferase 1) encodes a rate-limiting enzyme that catalyzes the biosynthesis of NAD+ and plays a role in neuroprotection. Mutations in NMNAT1 have been identified to cause a recessive, non-syndromic early form of blindness genetically defined as Leber Congenital Amaurosis 9 (LCA9). One of the most common alleles reported so far in NMNAT1 is the c.769G > A (E257K)...

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Identifiers

PMID: 29674119
DOI: 10.1016/j.exer.2018.04.010
PMCID: PMC6054811

Genes

NMNAT1

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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.PMID 29674119Read ↗

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