Cbs - cystathionine beta-synthase Gene
Also Known as HIP4
Species: Mus musculus
Summary
Enables cystathionine beta-synthase activity. Acts upstream of or within several processes, including alpha-amino acid metabolic process; endochondral bone morphogenesis; and regulation of JUN kinase activity. 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. Human ortholog(s) of this gene implicated in coronary artery disease; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, Apr 2022]
Cbs Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001271353.2 | NP_001258282.1 | cystathionine beta-synthase isoform 2 |
| NM_001410012.1 | NP_001396941.1 | cystathionine beta-synthase isoform 1 |
| NM_001410013.1 | NP_001396942.1 | cystathionine beta-synthase isoform 3 |
| NM_144855.4 | NP_659104.1 | cystathionine beta-synthase isoform 1 |
| NM_178224.4 | NP_835742.1 | cystathionine beta-synthase isoform 2 |
| NM_001271353.2 | NP_001258282.1 | cystathionine beta-synthase isoform 2 |
| NM_001410012.1 | NP_001396941.1 | cystathionine beta-synthase isoform 1 |
| NM_001410013.1 | NP_001396942.1 | cystathionine beta-synthase isoform 3 |
| NM_144855.4 | NP_659104.1 | cystathionine beta-synthase isoform 1 |
| NM_178224.4 | NP_835742.1 | cystathionine beta-synthase isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cystathionine beta-synthase activity |
IMP
IMP: Inferred from mutant phenotype
|
7878023 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cystathionine beta-synthase |
|