Title : Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Pub. Date : 2012 Sep

PMID : 22842230






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding. NAD nicotinamide nucleotide adenylyltransferase 1 Homo sapiens