| Primary Identifier | MGI:88285 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 12411 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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). PHENOTYPE: Homozygous targeted mutants are severely growth retarded and die within 5 weeks of birth with enlarged multinucleate hepatocytes filled with lipid and massively elevated plasma homocysteine levels. Heterozygotes have twice normal homocysteine levels, butsurvive and breed. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
