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NCBI Gene PubMed Count 29
PubMed Score 249.91
PubTator Score 155.53

Knowledge Summary


No data available


Gene RIF (19)

26154813 two single nucleotide polymorphisms (rs4446909 and rs5989681)in the promoter of ASMT do not contribute to the pathogenesis of schizophrenia in Chinese-Han subjects
25059483 results indicate that expression of sleep onset delay relates to melatonin pathway genes.
24881886 These data suggest a relationship between decreased mRNA and protein expression levels of ASMT gene and cognitive impairment.
24308489 Bipolar disorder-associated SNP influences sleep and circadian rhythms in bipolar patients in remission and controls.
23995775 results support the possible involvement of the ASMT gene in autism spectrum disorders
23349736 ASMT might be a susceptibility gene for autism
22775292 study presents the X-ray crystal structure of ASMT; analysis of nonsynonymous variants found that the majority of these mutations reduced or abolished ASMT activity; estimate the allelic frequency of ASMT deleterious mutations ranges from 0.66% in Europe to 2.97% in Asia
22694957 Rare and common variations in ASMT might play a role in bipolar disorder vulnerability.
21778461 There is dysregulation of the AANAT/ASMT/melatonin --> melatonin receptor axis in cholangiocarcinoma, which inhibited melatonin secretion and subsequently enhanced CCA growth.
21615493 Data found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A.
21437622 The expression of HIOMT in epithelial cells of striated ducts in human submandibular glands.
21251267 study of genetic variability of ASMT in a cohort of patients with intellectual disability (ID)and controls; identifed patients with deleterious ASMT mutations and decreased ASMT activity; however, study does not support ASMT as a causative gene for ID
20442744 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20433639 Results show the AA genotype and the GG genotype of ASMT were associated with lower risk for having recurrent depressive disorder. In turn, patients with depression were characterised by reduced mRNA expression for ASMT.
20433639 Observational study of gene-disease association. (HuGE Navigator)
20418777 The results of this study indicated that HIOMT immunohistochemistry may be useful for the diagnosis of PPTs and be a prognostic factor in pineal parenchymal cell tumors.
20377855 Observational study of gene-disease association. (HuGE Navigator)
17957233 The data of this study does not support a correleation between asmt gene and autism.
17505466 Two polymorphisms located in the acetylserotonin methyltransferase (ASMT)promoter were more frequent in autism spectrum disorders (ASD); analyses revealed a highly significant decrease in ASMT activity and melatonin level in individuals with ASD.

AA Sequence


Text Mined References (33)

PMID Year Title
26154813 2015 ASMT gene polymorphisms have no association with schizophrenia in a Han Chinese sample.
25833399 2015 Placental melatonin system is present throughout pregnancy and regulates villous trophoblast differentiation.
25059483 2015 Genetic variation in melatonin pathway enzymes in children with autism spectrum disorder and comorbid sleep onset delay.
24881886 2014 ASMT gene expression correlates with cognitive impairment in patients with recurrent depressive disorder.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24308489 2014 An ASMT variant associated with bipolar disorder influences sleep and circadian rhythms: a pilot study.
23995775 2014 Association between ASMT and autistic-like traits in children from a Swedish nationwide cohort.
23349736 2013 Sequencing ASMT identifies rare mutations in Chinese Han patients with autism.
22775292 2013 Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway.
22694957 2012 Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder.
21778461 2011 Melatonin exerts by an autocrine loop antiproliferative effects in cholangiocarcinoma: its synthesis is reduced favoring cholangiocarcinoma growth.
21615493 2011 Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
21437622 2011 Expression and cellular localizaion of melatonin-synthesizing enzymes in rat and human salivary glands.
21251267 2011 Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability.
20442744 2010 Linkage and candidate gene studies of autism spectrum disorders in European populations.
20433639 2010 Single-nucleotide polymorphisms and mRNA expression for melatonin synthesis rate-limiting enzyme in recurrent depressive disorder.
20418777 2010 Expression of hydroxyindole-O-methyltransferase enzyme in the human central nervous system and in pineal parenchymal cell tumors.
20377855 2010 Mutation screening of melatonin-related genes in patients with autism spectrum disorders.
17957233 2007 Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
17505466 2008 Abnormal melatonin synthesis in autism spectrum disorders.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12734775 2003 Gonadotropin-releasing hormone increases melatonin release in the pineal gland of the female rat in vitro.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11339514 2001 Gene expression of the key enzymes of melatonin synthesis in extrapineal tissues of the rat.
8842389 1996 Hydroxyindole-O-methyltransferase in Y-79 cells: regulation by serum.
8752109 1996 Retinoic acid increases hydroxyindole-O-methyltransferase activity and mRNA in human Y-79 retinoblastoma cells.
8574683 1995 Human hydroxyindole-O-methyltransferase in pineal gland, retina and Y79 retinoblastoma cells.
8397829 1993 Human hydroxyindole-O-methyltransferase: presence of LINE-1 fragment in a cDNA clone and pineal mRNA.
8098975 1993 Localization of the hydroxyindole-O-methyltransferase gene to the pseudoautosomal region: implications for mapping of psychiatric disorders.
7989373 1994 Structural analysis of the human hydroxyindole-O-methyltransferase gene. Presence of two distinct promoters.
1878930 1991 Localization of hydroxyindole O-methyltransferase-synthesizing cells in bovine epithalamus: immunocytochemistry and in-situ hybridization.