AANAT (gene)

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Aralkylamine N-acetyltransferase
Identifiers
Symbols AANAT ; DSPS; SNAT
External IDs OMIM600950 HomoloGene31013 GeneCards: AANAT Gene
EC number 2.3.1.87
Orthologs
Species Human Mouse
Entrez 15 11298
Ensembl ENSG00000129673 ENSMUSG00000020804
UniProt Q16613 O88816
RefSeq (mRNA) NM_001088 NM_009591
RefSeq (protein) NP_001079 NP_033721
Location (UCSC) Chr 17:
74.45 – 74.47 Mb
Chr 11:
116.59 – 116.6 Mb
PubMed search [1] [2]

Aralkylamine N-acetyltransferase is an enzyme in that humans is encoded by the AANAT gene.[1]

Function[edit]

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.[1]

Clinical significance[edit]

This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome.[1]

References[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.