ASMT Human
Description
Gene and Protein Structure
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Gene Location: The ASMT gene resides in the pseudoautosomal region (PAR1) of both the X and Y chromosomes, enabling shared inheritance between sexes .
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Protein Isoforms: Humans express three isoforms of ASMT, with Isoform 1 being enzymatically active in melatonin synthesis. Isoforms 2 and 3 lack catalytic activity .
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Amino Acid Sequence: The human ASMT protein consists of 373 amino acids. Its structure includes a conserved methyltransferase domain critical for enzymatic activity .
Enzymatic Function
ASMT catalyzes two key reactions:
Genetic Mutations and Disorders
ASMT mutations are linked to several clinical conditions:
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Psychiatric Disorders: Reduced ASMT activity correlates with lower melatonin levels, serving as a biomarker for depression, bipolar disorder, and seasonal affective disorder .
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Developmental Disorders: ASMT deficiency is observed in autism spectrum disorders, with patients showing significantly lower melatonin levels .
Neurobehavioral and Gut Microbiota Links
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Animal Studies:
Immune System Expression
ASMT mRNA is detected in immune cells (B lymphocytes, T cells, NK cells), suggesting roles beyond circadian regulation .
Recombinant ASMT Human Proteins
Future Research Directions
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Gender-Specific Mechanisms: Elucidate why ASMT mutations disproportionately affect females in neurobehavioral contexts .
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Therapeutic Targeting: Explore ASMT modulation to address melatonin-deficient disorders or gut microbiota dysbiosis .
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Diagnostic Biomarkers: Validate ASMT activity levels as markers for pineal tumors or mood disorders .
Product Specs
HIOMT, HIOMTY, Acetylserotonin O-methyltransferase , Hydroxyindole O-methyltransferase , ASMT.
Product Science Overview
The gene encoding ASMT is located in the pseudoautosomal region (PAR) at the ends of the short arms of both the X and Y chromosomes . This region is unique because it is present on both sex chromosomes, allowing for the gene to be expressed in both males and females. The ASMT gene is highly conserved across different species, indicating its essential role in biological processes .
The human recombinant form of ASMT is produced by introducing the gene coding for the human ASMT protein into a plasmid vector, which is then transformed into E. coli cells. These cells are cultured under conditions favorable for the expression of the gene, and the recombinant protein is subsequently isolated and purified .
ASMT is primarily found in the pineal gland and retina, where it is involved in the regulation of circadian rhythms and sleep-wake cycles through the production of melatonin . Melatonin is a hormone that signals the body to prepare for sleep, and its production is influenced by the light-dark cycle. ASMT’s role in melatonin synthesis makes it a critical enzyme for maintaining the body’s internal clock and overall health.
In addition to its role in melatonin synthesis, ASMT also catalyzes the conversion of 5-hydroxy-indoleacetate to 5-methoxy-indoleacetate, another reaction in the tryptophan metabolism pathway . This dual functionality highlights the enzyme’s importance in various biochemical processes.
Recombinant human ASMT is used in various research applications to study its function and regulation. Understanding the enzyme’s activity can provide insights into sleep disorders, mood disorders, and other conditions related to circadian rhythm disruptions. Additionally, ASMT has been studied for its potential role in the diagnosis and prognosis of pineal parenchymal cell tumors .
The recombinant form of ASMT is typically produced with tags, such as an N-terminal 10xHis tag and a C-terminal Myc tag, to facilitate its purification and detection in experimental settings . This allows researchers to study the enzyme in a controlled environment and gain a deeper understanding of its biochemical properties and interactions.
