Primary Identifier | MGI:1913704 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 66454 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables nicotinamide-nucleotide adenylyltransferase activity; nicotinate-nucleotide adenylyltransferase activity; and protein ADP-ribosyltransferase-substrate adaptor activity. Involved in negative regulation of DNA-templated transcription. Acts upstream of or within NAD biosynthetic process and response to wounding. Located in nucleus. Is active in chromatin. Is expressed in retina; retina ganglion cell layer; retina inner nuclear layer; and retina layer. Used to study Leber congenital amaurosis 9 and retinal degeneration. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis. Orthologous to human NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete prenatal lethality. [provided by MGI curators] |