The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]

  • Cysteine biosynthetic process from serine
  • L-serine metabolic process
  • L-serine catabolic process
  • Metabolic process
  • Cellular amino acid biosynthetic process
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Homocystinuria
  • Homocysteinemia
  • Hypermethioninemia
  • Pyridoxine deficiency anemia
  • General Aortopathy

Based on Ayass Bioscience, LLC Data Analysis

Gene Location

Pathogenic Prevalence

% 0.204290091930541

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

HM-VUS Prevalence

% 0.817160367722165

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

G=0.00783(730/93287,ALFAProject)
G=0.00025(20/78612,PAGE_STUDY)
G=0.00083(26/31224,GnomAD)
G=0.0002(1/5008,1000G)
G=0.0034(10/2922,KOREAN)
G=0.011(11/998,GoNL)
G=0.000(0/304,HapMap)
G=0.069(15/216,Qatari)
A=0.50(28/56,SGDP_PRJ)
G=0.50(28/56,SGDP_PRJ)

High/Med VUS Variants

T=0.000155(39/251400,GnomAD_exome)
T=0.000157(19/121292,ExAC)
T=0.00026(24/92796,ALFAProject)
T=0.00001(1/78694,PAGE_STUDY)
T=0.00025(8/31396,GnomAD)
T=0.0002(1/4480,Estonian)

T=0.000008(2/247926,GnomAD_exome)
T=0.000025(3/118276,ExAC)
T=0.00008(1/13006,GO-ESP)
T=0.0000(0/6394,ALFAProject)

G=0.00783(730/93287,ALFAProject)
G=0.00025(20/78612,PAGE_STUDY)
G=0.00083(26/31224,GnomAD)
G=0.0002(1/5008,1000G)
G=0.0034(10/2922,KOREAN)
G=0.011(11/998,GoNL)
G=0.000(0/304,HapMap)
G=0.069(15/216,Qatari)
A=0.50(28/56,SGDP_PRJ)
G=0.50(28/56,SGDP_PRJ)

T=0.000334(56/167900,GnomAD_exome)
T=0.00029(27/92640,ALFAProject)
T=0.00033(26/78610,PAGE_STUDY)
T=0.00026(8/31360,GnomAD)
T=0.00030(7/23348,ExAC)
T=0.0004(2/5008,1000G)
T=0.0000(0/3854,ALSPAC)
T=0.0005(2/3708,TWINSUK)
T=0.002(1/534,MGP)