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ASMT belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes.
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two single nucleotide polymorphisms (rs4446909 and rs5989681)in the promoter of ASMT do not contribute to the pathogenesis of schizophrenia in Chinese-Han subjects
These data suggest a relationship between decreased mRNA and protein expression levels of ASMT gene and cognitive impairment.
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
results support the possible involvement of the ASMT gene in autism spectrum disorders
ASMT might be a susceptibility gene for autism
Rare and common variations in ASMT might play a role in bipolar disorder vulnerability.
Data found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (show MTNR1A Proteins) (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A (show MTNR1A Proteins).
There is dysregulation of the AANAT (show AANAT Proteins)/ASMT/melatonin --> melatonin receptor axis in cholangiocarcinoma, which inhibited melatonin secretion and subsequently enhanced CCA (show FBN2 Proteins) growth.
The expression of HIOMT in epithelial cells of striated (show NSDHL Proteins) ducts in human submandibular glands.
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
The study revealed that ASMT and MTNR1A (show MTNR1A Proteins) genes were expressed in cumulus-oocyte complexes (COCs).
This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene.
, hydroxyindole O-methyltransferase
, acetylserotonin N-methyltransferase
, acetylserotonin methyltransferase (Y chromosome)
, acetylserotonin methyltransferase
, hydroxyindole O-methyltransfease