AlphaFold predicted structure
CBS · P35520
Mean pLDDT
90.1/ 100
Very high
551 residues
Confidence breakdown
- Very high(≥ 90)76%
- Confident(70–90)15%
- Low(50–70)2%
- Very low(< 50)7%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CBS
Chr 21q22.3cystathionine beta-synthase
- Aliases:
- HIP4
- MANE:
- ENST00000398165.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalThoracic aortic aneurysm or dissection (GMS)
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalThoracic aortic aneurysm or dissection
BIALLELIC, autosomal or pseudoautosomal
+5 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
classic homocystinuria
0.87Classical homocystinuria
0.87homocystinuria
0.58hyperhomocysteinemia, thrombotic, cbs-related
0.56familial thoracic aortic aneurysm and aortic dissection
0.55Marfan syndrome
0.42connective tissue disorder
0.41hyperhomocysteinemia
0.35Abnormality of metabolism/homeostasis
0.27Rare disease with thoracic aortic aneurysm and aortic dissection
0.19
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Cystathionine beta-synthase
Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity)
Diseases associated with CBS
Curated MONDO disease pages that list CBS among their top associated genes.