Lurp

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


rs1801181

Hard Link
rs1801181 is a snp on gene CBS (cystathionine-beta-synthase)

GeneCBS Chromosome number 21 Chromosome position 43060506
Alleles G/A (transliterated to +) Minor Allele A Minor Allele Frequency 0.2955
Notation C1080T, A360A Clinical significance Orientation (dbSNP) - (negative/reverse strand)
SNP Function
HCy to cystathionine. Regulates H2S. Start of Glutathione production. Brain [PMID: 15890029] CBS domains usually come in tandem repeats and are found in cytosolic and membrane proteins performing different functions (metabolic enzymes, kinases, and channels). Crystallographic studies of bacterial CBS domains have shown that two CBS domains form an intramolecular dimeric structure (CBS pair). [PMID: 16275737] Several human hereditary diseases (homocystinuria, retinitis pigmentosa, hypertrophic cardiomyopathy, myotonia congenital, etc.) can be caused by mutations in CBS domains of, respectively, cystathionine-beta-synthase, inosine 5'-monophosphate dehydrogenase, AMP kinase, and chloride channels. [PMID 16275737] Human CBS performs a crucial step in the biosynthetic pathway of cysteine by providing a regulatory control point for S-adenosylmethionine (AdoMet). Alternatively, L-homocysteine, after being methylated to methionine, can be converted to AdoMet, which donates methyl groups to a variety of substrates, e.g., neurotransmitters, proteins, and nucleic acids. AdoMet functions as an allosteric activator of CBS by increasing the enzyme activity about threefold (20). In doing so, AdoMet exerts control on its biosynthesis: low concentrations of AdoMet result in low CBS activity, thereby funneling homocysteine in the transmethylation pathway toward AdoMet formation. In contrast, high AdoMet concentrations allow the clearance of homocysteine into the transsulfuration pathway, leading to cysteine biosynthesis. [PMID: 15581573] CBS occupies a pivotal position in mammalian sulfur metabolism at the homocysteine junction where the decision to conserve methionine or to convert it to cysteine via the transsulfuration pathway, is made. Moreover, the transsulfuration pathway is the only pathway capable of removing sulfur-containing amino acids under conditions of excess. [PMID: 18398434] CBS C1080T show normal mRNA formation and CBS activity.
Gene Function
Cystathionine β-synthase, or the CBS enzyme that begins the transsulfuration pathway to provide sulfur groups needed for detoxification, neuroprotection by making glutathione and hydrogen sulfide, as well as for neurotransmitter and hormone modification. Sulfation can be blocked by non-steroidal anti-inflammatory drugs (e.g. aspirin), tartrazine (yellow food dye) and molybdenum deficiency. CBS enzyme activation needs pyridoxal-5' phosphate, the active form of vitamin B6. S-adenosyl methionine regulates enzyme activity. The downstream pathway from CBS is the sulfite oxidase enzyme, made by the SUOX gene, requires molybdenum produces sulfates from toxic sulfites. SUOX can be inactivated by tungsten toxicity.  CBS may be upregulated to produce hydrogen sulfide if persists can counter the neuroprotective effects of hydrogen sulfide and deplete cofactors needed to make glutathione. Elevated homocysteine or cysteine may contribute to brain fog. Some CBS SNPs are associated with midline defects. Issues in the methionine and folate cycle may contribute to depletion of sulfur production in the transsulfation pathway. Other subunits of transsulfation and the sulfation pathways may be involved in neurotoxicity, or neurotransmitter dysregulation.
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

NOT CURATED





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