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CBS

From SNPedia

is agene
is mentioned by
Full namecystathionine-beta-synthase
EntrezGene875
PheGenI875
VariationViewer875
ClinVarCBS
GeneCardsCBS
dbSNP875
DiseasesCBS
SADR875
HugeNav875
wikipediaCBS
googleCBS
gopubmedCBS
EVSCBS
HEFalMpCBS
MyGene2CBS
23andMeCBS
UniProtP35520
EnsemblENSG00000160200
OMIM613381
# SNPs73
 Max MagnitudeChromosome positionSummary
rs1120317243,060,005
rs117687681043,060,481
rs121964962043,062,988
rs121964963043,066,260
rs121964964043,066,353
rs121964965043,066,279
rs121964966043,066,264
rs121964967043,059,299
rs121964968043,053,920
rs121964969043,063,931
rs121964970043,065,645
rs121964971043,058,215
rs1219649724.543,060,528
rs121964973043,065,481
rs1232976443,063,138
rs12329790044,483,184
rs138211175043,058,919
rs139456571043,065,269
rs140002610043,066,300
rs147474549043,066,294
rs148865119043,072,048
rs149119723043,063,943
rs1789953043,062,826
rs1801181043,060,506
rs199948079043,072,032
rs2298758043,065,417
rs2347062.543,065,240Influences folate metabolism
rs23470943,066,854
rs23471343,067,781
rs23471443,067,923
rs23471543,068,285An snp on CBS, for cystathionine-β-synthase - it is one of the genes involved in the folate pathway.
rs285139143,067,294
rs2893427543,063,931
rs28934891043,058,862
rs28934892043,058,927
rs3475814443,058,472
rs372010465043,060,475
rs375846341043,058,970
rs398123151043,062,344
rs492003743,061,781
rs57429053.543,063,074
rs6586282043,058,387
rs745704046043,065,690
rs758236584043,063,958
rs760214620043,066,348
rs762065361043,065,621
rs763036586043,060,450
rs764160782043,065,279
rs769080151043,060,451
rs770095972043,066,332
... further results


The CBS gene encodes the enzyme called cystathionine beta-synthase. This enzyme acts in a chemical pathway and is responsible for using vitamin B6 to convert the amino acids homocysteine and serine to a molecule called cytathionine. Another enzyme then converts cystathionine to the amino acid cysteine, which is used to build proteins or is broken down and excreted in urine. Additionally, other amino acids, including methionine, are produced in this pathway.Genetics Home Ref

More than 150 mutations that cause homocystinuria have been identified in the CBS gene. The most common mutation substitutes the amino acid threonine for the amino acid isoleucine at position 278 in the enzyme (written as Ile278Thr or I278T; rs5742905). Another common mutation, which is the most frequent cause of homocystinuria in the Irish population, replaces the amino acid glycine with the amino acid serine at position 307 (written as Gly307Ser or G307S; rs121964972). These mutations disrupt the normal function of cystathionine beta-synthase. As a result, homocysteine and other potentially toxic compounds build up in the blood, and homocysteine is excreted in urine. Researchers have not determined how excess homocysteine leads to the signs and symptoms of homocystinuria.Genetics Home Ref

Homocystinuria is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Although people who carry one mutated copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS mutation to have shortages (deficiencies) of vitamin B12 and folic acid.Genetics Home Ref