CBS Chromosome 21
Cystathionine beta-synthase
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What This Gene Does
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]
Associated Conditions (25)
HYPERHOMOCYSTEINEMIA
THROMBOTIC
CBS-RELATED
Classic homocystinuria
Familial thoracic aortic aneurysm and aortic dissection
CBS-related disorder
Connective tissue disorder
Congenital myopathy
Cardiovascular phenotype
Homocystinuria
pyridoxine-responsive
pyridoxine-nonresponsive
Intellectual disability
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Lung cancer
Malignant tumor of urinary bladder
Nonpapillary renal cell carcinoma
Cervical cancer
Colon adenocarcinoma
+5 more conditions
Key Variants
RS1000697114
Conflicting classifications of pathogenicity
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Health Risk
RS111386779
Conflicting classifications of pathogenicity
Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC
Health Risk
RS112029370
Conflicting classifications of pathogenicity
Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC
Health Risk
RS1176770868
Conflicting classifications of pathogenicity
Classic homocystinuria, CBS-related disorder, HYPERHOMOCYSTEINEMIA
Health Risk
RS117687681
Conflicting classifications of pathogenicity
Classic homocystinuria, Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS121964965
Conflicting classifications of pathogenicity
Homocystinuria, pyridoxine-responsive, HYPERHOMOCYSTEINEMIA
Health Risk
RS121964970
Conflicting classifications of pathogenicity
Homocystinuria, pyridoxine-responsive, Classic homocystinuria
Health Risk
RS121964973
Conflicting classifications of pathogenicity
Homocystinuria, pyridoxine-nonresponsive, Classic homocystinuria
Health Risk
RS138211175
Conflicting classifications of pathogenicity
Classic homocystinuria, Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA
Health Risk
RS138432416
Conflicting classifications of pathogenicity
Connective tissue disorder, HYPERHOMOCYSTEINEMIA, THROMBOTIC
Health Risk
RS1388184910
Conflicting classifications of pathogenicity
Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC
Health Risk
RS139651937
Conflicting classifications of pathogenicity
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
Health Risk
All Variants (296)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2517447078 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517447331 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS2517447876 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517452643 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517452797 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS2517454033 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS2517454427 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517469335 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517469721 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517470142 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS2517470463 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS2517483238 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS2517483521 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS372010465 | Health Risk | Likely pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS377708532 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS398123151 | Health Risk | Likely pathogenic | Classic homocystinuria, Homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS562885611 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS5742905 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS746575551 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS751464024 | Health Risk | Likely pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS758703098 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS760609383 | Health Risk | Likely pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS760912339 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS763835246 | Health Risk | Likely pathogenic | Classic homocystinuria, Homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS763890444 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS767036273 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS769080151 | Health Risk | Likely pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS774926464 | Health Risk | Likely pathogenic | — |
| RS777956934 | Health Risk | Likely pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS863223433 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS865990681 | Health Risk | Likely pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS866630296 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria, Classic homocystinuria |
| RS886057099 | Health Risk | Likely pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS1057516645 | Health Risk | Pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS1057517083 | Health Risk | Pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS1064793703 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS1166621523 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS1178687976 | Health Risk | Pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS1208139876 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS121964962 | Health Risk | Pathogenic | Homocystinuria, pyridoxine-nonresponsive, HYPERHOMOCYSTEINEMIA |
| RS121964971 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS121964972 | Health Risk | Pathogenic | Homocystinuria, pyridoxine-nonresponsive, Classic homocystinuria |
| RS1234354755 | Health Risk | Pathogenic | Classic homocystinuria, HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS1308193541 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS1332950288 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS1347651454 | Health Risk | Pathogenic | Homocystinuria, Familial thoracic aortic aneurysm and aortic dissection, See cases |
| RS1361324844 | Health Risk | Pathogenic | Homocystinuria, Classic homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS1438933819 | Health Risk | Pathogenic | Classic homocystinuria, Classic homocystinuria |
| RS1463986810 | Health Risk | Pathogenic | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
| RS1464223176 | Health Risk | Pathogenic | Homocystinuria, Classic homocystinuria, HYPERHOMOCYSTEINEMIA |