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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASMT
acetylserotonin O-methyltransferase
Chromosome X|Y · X;Y
NCBI Gene: 438Ensembl: ENSG00000196433.13HGNC: HGNC:750UniProt: P46597
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingmelatonin biosynthetic processprotein homodimerization activityacetylserotonin O-methyltransferase activityAbnormality of prenatal development or birthtriple-negative breast cancerX-linked intellectual disability-macrocephaly-macroorchidism syndromeX-linked intellectual disability - macrocephaly - macroorchidism
✦AI Summary

ASMT (acetylserotonin O-methyltransferase) is the final enzyme in the melatonin biosynthesis pathway, catalyzing the conversion of N-acetylserotonin to melatonin 1. The enzyme functions as a physiologically active dimer with distinct N-terminal and C-terminal domains, where the N-terminal domain facilitates dimerization and the C-terminal domain performs SAM-dependent O-methyltransferase activity 1. ASMT is located on the X chromosome X|Y exhibits sex-specific effects, particularly in females where it maintains gut microbiota plasticity and enhances neurobehavioral adaptability to exercise 2. The enzyme's dysfunction is clinically significant across multiple neuropsychiatric conditions. Deleterious ASMT mutations reduce enzyme activity and are associated with autism spectrum disorders, intellectual disability, and bipolar disorder 345. In depression, both mRNA and protein expression levels are significantly decreased and correlate with cognitive impairment 6. ASMT variants affect circadian rhythms and sleep patterns, with functional polymorphisms influencing sleep duration and activity patterns 5. The enzyme's role extends beyond neuropsychiatry, as disrupted ASMT activity and altered NAS/melatonin ratios have been implicated in hormone receptor-positive breast cancer pathophysiology 7.

Sources cited
1
ASMT is the last enzyme in melatonin biosynthesis pathway and functions as a physiologically active dimer
PMID: 22775292
2
ASMT is X-linked and maintains gut microbiota plasticity in females, enhancing neurobehavioral adaptability to exercise
PMID: 37935873
3
Deleterious ASMT mutations reduce enzyme activity and are associated with intellectual disability
PMID: 21251267
4
ASMT genetic variants are associated with autism spectrum disorders
PMID: 23995775
5
ASMT variants are associated with bipolar disorder and influence sleep and circadian rhythms
PMID: 24308489
6
ASMT mRNA and protein expression are decreased in recurrent depressive disorder and correlate with cognitive impairment
PMID: 24881886
7
Disrupted ASMT activity and altered NAS/melatonin ratios are implicated in hormone receptor-positive breast cancer
PMID: 40725047
Disease Associationsⓘ20
Abnormality of prenatal development or birthOpen Targets
0.13Weak
triple-negative breast cancerOpen Targets
0.06Suggestive
X-linked intellectual disability - macrocephaly - macroorchidismOpen Targets
0.04Suggestive
X-linked intellectual disability-macrocephaly-macroorchidism syndromeOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Testicular regression syndromeOpen Targets
0.04Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.04Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.04Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.04Suggestive
familial male-limited precocious pubertyOpen Targets
0.04Suggestive
testicular agenesisOpen Targets
0.04Suggestive
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
depressive disorderOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AANATProtein interaction99%IDO1Protein interaction96%IDO2Protein interaction95%CYP1A1Protein interaction95%AOX1Protein interaction95%CYP1A2Protein interaction94%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
42%
Lung
39%
Liver
33%
Brain
7%
Heart
0%
Gene Interaction Network
Click a node to explore
ASMTAANATIDO1IDO2CYP1A1AOX1CYP1A2
PROTEIN STRUCTURE
Preparing viewer…
PDB4A6D · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.61LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.28 [1.03–1.61]
RankingsWhere ASMT stands among ~20K protein-coding genes
  • #10,734of 20,598
    Most Researched36
  • #15,730of 17,882
    Most Constrained (LOEUF)1.61
Genes detectedASMT
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ASMT determines gut microbiota and increases neurobehavioral adaptability to exercise in female mice.
PMID: 37935873
Commun Biol · 2023
1.00
2
Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
PMID: 22775292
J Pineal Res · 2013
0.90
3
Melatonin and alcohol-related disorders.
PMID: 32419511
Chronobiol Int · 2020
0.80
4
Association between ASMT and autistic-like traits in children from a Swedish nationwide cohort.
PMID: 23995775
Psychiatr Genet · 2014
0.70
5
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
PMID: 21251267
BMC Med Genet · 2011
0.60