Cbs Gene Summary [Mouse]
Enables cystathionine beta-synthase activity. Acts upstream of or within several processes, including endochondral bone morphogenesis; regulation of intracellular signal transduction; and sulfur amino acid metabolic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; connective tissue; nervous system; sensory organ; and skeleton. Used to study homocystinuria and hyperhomocysteinemia. Human ortholog(s) of this gene implicated in several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cbs |
| Official Name | cystathionine beta-synthase [Source:MGI Symbol;Acc:MGI:88285] |
| Ensembl ID | ENSMUSG00000024039 |
| Bio databases IDs | |
| Aliases | cystathionine beta-synthase |
| Synonyms | CBSL, cystathionine beta-synthase, Cystathionine β synthase, cystathionine β synthetase, HIP4 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cbs often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 2,3-diaminopropionate biosynthesis protein SbnA
- ubiquitin protein ligase binding
- Domain in cystathionine beta-synthase and other proteins
- oxygen binding
- Trp-synth-beta_II
- CBS domain
- enzyme binding
- enzyme
- protein binding
- heme binding
- identical protein binding
- nitrite reductase
- CBS_pair_SF
- pyridoxal phosphate binding
- binding protein
- Pyridoxal-phosphate dependent enzyme
- cysteine synthase
- protein homodimerization
- cystathionine beta-synthase
- cysteine synthase B
Pathways
Biological processes and signaling networks where the Cbs gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- metastasis
- advanced cancer
- non-insulin-dependent diabetes mellitus
- Alzheimer disease
- cystathionine beta-synthase-related thrombotic hyperhomocysteinemia
- cystathionine beta-synthase deficiency
- homocystinuria
- thoracic aortic aneurysms and dissections
phenotypes
- abnormal Muller cell morphology
- abnormal amino acid level
- abnormal astrocyte morphology
- abnormal blood-retinal barrier function
- abnormal circulating amino acid level
- abnormal circulating homocysteine level
- abnormal coat appearance
- abnormal eye development
- abnormal facial morphology
- abnormal hair follicle morphology
- abnormal hair growth
- abnormal heart development
- abnormal hepatocyte morphology
- abnormal interleukin level
- abnormal keratinocyte differentiation
- abnormal limb morphology
- abnormal lung development
- abnormal maternal decidual layer morphology
- abnormal ovarian follicle number
- abnormal pericyte morphology
- abnormal placenta junctional zone morphology
- abnormal placenta labyrinth morphology
- abnormal pregnancy
- abnormal retina morphology
- abnormal retinal blood vessel morphology
- abnormal retinal blood vessel pattern
- abnormal retinal vasculature morphology
- abnormal tail morphology
- abnormal tumor necrosis factor level
- abnormal uterine environment
- abnormal uterus weight
- abnormal vascular endothelial cell physiology
- abnormal vasodilation
- abnormal venule morphology
- abnormal vitreous body morphology
- decreased body size
- decreased body weight
- decreased circulating taurine level
- decreased litter size
- decreased placenta weight
- delayed eyelid opening
- delayed kidney development
- enlarged liver
- enlarged sebaceous gland
- enlarged spinous cells
- extramedullary hematopoiesis
- female infertility
- hemosiderosis
- hepatic steatosis
- hyperkeratosis
- increased astrocyte number
- increased circulating homocysteine level
- increased circulating progesterone level
- increased hair follicle number
- increased hepatocyte apoptosis
- increased vascular permeability
- liver fibrosis
- liver inflammation
- microphthalmia
- microvesicular hepatic steatosis
- oxidative stress
- pale liver
- pointed snout
- postnatal growth retardation
- postnatal lethality incomplete penetrance
- premature death
- prolonged metestrus
- retina microaneurysm
- retinal gliosis
- retinal ischemia
- retinal neovascularization
- short diestrus
- short estrous cycle
- short estrus
- thin dermal layer
- thin hypodermis
- vasculature congestion
- wrinkled skin
role in cell
- proliferation
- expression in
- production in
- apoptosis
- downregulation in
- phosphorylation in
- growth
- migration
- colony formation by
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- cytosol
- perikaryon
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cbs gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hydrogen sulfide biosynthetic process
- homocysteine catabolic process
- maternal process involved in female pregnancy
- cartilage development involved in endochondral bone morphogenesis
- L-serine metabolic process
- cysteine biosynthetic process from serine
- L-serine catabolic process
- cerebellum morphogenesis
- blood vessel remodeling
- superoxide metabolic process
- negative regulation of apoptotic process
- DNA protection
- regulation of nitric oxide mediated signal transduction
- response to folic acid
- cysteine biosynthetic process
- endochondral ossification
- cysteine biosynthetic process via cystathionine
- transsulfuration
- cellular response to hypoxia
- homocysteine metabolic process
- L-cysteine catabolic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- oxygen binding
- pyridoxal phosphate binding
- identical protein binding
- protein homodimerization activity
- cystathionine beta-synthase activity
- heme binding
- modified amino acid binding
- nitrite reductase (NO-forming) activity
- ubiquitin protein ligase binding
- protein binding
- metal ion binding
- carbon monoxide binding
- nitric oxide binding
- enzyme binding