HNMT Chromosome 2
Histamine N-methyltransferase
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What This Gene Does
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"7BS small molecule methyltransferases|Small molecule methyltransferases"
Locus Type
gene with protein product
Location
2q22.1
Ensembl
ENSG00000150540
Associated Conditions (4)
Inherited susceptibility to asthma
HNMT-related disorder
Intellectual disability
autosomal recessive 51
Key Variants
RS11558538
Benign; risk factor
Inherited susceptibility to asthma, HNMT-related disorder, Inherited susceptibility to asthma
Health Risk
RS528223406
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 51, Intellectual disability
Health Risk
RS765863580
Conflicting classifications of pathogenicity
Intellectual disability, autosomal recessive 51, Inherited susceptibility to asthma
Health Risk
RS745756308
Likely pathogenic
Intellectual disability, autosomal recessive 51, Intellectual disability
Health Risk
RS758252808
Pathogenic
Intellectual disability, autosomal recessive 51, Intellectual disability
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11558538 | Health Risk | Benign; risk factor | Inherited susceptibility to asthma, HNMT-related disorder, Inherited susceptibility to asthma |
| RS528223406 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 51, Intellectual disability |
| RS765863580 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, autosomal recessive 51, Inherited susceptibility to asthma |
| RS745756308 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 51, Intellectual disability |
| RS758252808 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 51, Intellectual disability |