AANAT aralkylamine N-acetyltransferase
Gene ID: 15, updated on 2-Mar-2024Gene type: protein coding
Also known as: DSPS; SNAT
- See all available tests in GTR for this gene
- Go to complete Gene record for AANAT
- Go to Variation Viewer for AANAT variants
Summary
The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Genomic context
- Location:
- 17q25.1
- Sequence:
- Chromosome: 17; NC_000017.11 (76453351..76470117)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AANAT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AANAT database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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