Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs617219

Hard Link
rs617219 is a snp on gene BHMT (betaine--homocysteine S-methyltransferase)

GeneBHMT Chromosome number 5 Chromosome position 79133771
Alleles A/C Minor Allele C Minor Allele Frequency 0.3696
Notation 04 Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Yasko Methylation The product the BHMT gene is central to the 'short cut' through the methylation cycle, again helping to convert homocysteine to methionine. The activity of this gene product can be affected by stress, by cortisol levels and may play a role in ADD/ADHD by affecting norepinephrine levels. Yasko believes that believes BHMT-02 and BHMT-04 play a role in the gut environment.
Gene Function
The BHMT gene (not BHMT2) provides instructions for making a protein that converts betaine (trimethylglycine) and homocysteine (a byproduct of the amino acid methionine, and toxic at high levels) to dimethylglycine and methionine, respectively. BHMT2 converts homocysteine to methionine, and the cofactor for this conversion is zinc. BHMT2 is inhibited by high levels of methionine, and does not use S-adenosylmethionine (SAMe) as a methyl donor. Defects in the BHMT gene could lead to elevated blood homocysteine levels. The product of this gene is central to the ‘short cut’ through the methylation cycle in helping to convert homocysteine to methionine. BHMT may therefore play a critical role in homocysteine homeostasis, or balance, when the manufacture of methionine, a folate-dependent process, is compromised by dietary or genetic influences. The activity of the BHMT gene product can be affected by stress, by cortisol levels, and may play a role in ADD/ADHD through its affect on norepinephrine (adrenaline) levels. Phosphatidylcholine may be indicated.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

NOT REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





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