NMNAT1 nicotinamide nucleotide adenylyltransferase 1

Gene ID: 64802, updated on 16-Apr-2024
Gene type: protein coding
Also known as: LCA9; NMNAT; PNAT1; SHILCA

Summary

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Leber congenital amaurosis 9 MedGen: C1837873OMIM: 608553GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview	See labs
Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis MedGen: C5543257OMIM: 619260GeneReviews: Not available	See labs

Genomic context

Location:: 1p36.22

Sequence:: Chromosome: 1; NC_000001.11 (9942923..9996892)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for NMNAT1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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