| Symbol
| CBS
| contributors: mct - updated : 05-06-2016
|
| HGNC name
| cystathionine-beta-synthase
|
| HGNC id
| 1550
|
| corresponding disease(s)
|
CBSD
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
is a cause of maternal obstetric complications such as preeclampsia, pregnancy loss | | constitutional
|
|
|
| loss of function
|
ischemia-reperfusion reduces the activity of CBS leading to Hcy accumulation in the kidney, which in turn contributes to renal injury  | | tumoral
|
|
| --low
|
| |
in hepatocellular carcinoma and associated with poor prognosis | |
| Susceptibility
|
to neural tube defect (NTD) in association with MTHFR, but no evidence of association with NTD in Netherlands and U.K to the development of premature occlusive arterial disease to cleft lip and palate to intracranial aneurysms |
| Variant & Polymorphism
SNP
| 699 C>T,1080C>T, maybe involved in plasma homocysteine levels |
|
insertion c844ins68 associated with cleft lip and palate |
|
olymorphisms of homocysteine metabolism are possible risk factors for the formation of intracranial aneurysms ( |
| 
|
Candidate gene
| Marker
| lower levels of BHMT and CBS methylation are all predictors of failure in folic acid therapy for HHCY (hyperhomocysteinemia) | Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| metabolism | amino acids | | |
| chemical chaperones present during the initial folding process can facilitate proper folding of several mutant CBS proteins and suggest it may be possible to treat some inborn errors of metabolism with agents that enhance proper protein folding |
| | |
|
| CBS deficient TgI278T Cbs(-/-) mice have significantly decreased fat mass and tCys compared to heterozygous sibling mice | |
mice with methionine-deficient diet, had a 50p100 reduction in the levels of liver CBS protein and enzyme activity, because diet induces post-transcriptional downregulation of Cbs |