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Details of CBS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| CBS | --- | P35520 | CBS_HUMAN | 875 | ENSG00000160200 | Cystathionine beta-synthase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. Note=The disease is caused by mutations affecting the gene represented in this entry. | 236200 | ||||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Cbs | Cbs | cysl-1... | Sp-Cbs | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| RTFDC1 | CBS | 0.104644547 | RTFDC1 | CBS |
| CBS | QARS | 0.111977398 | CBS | QARS |
| CBS | CTH | 0.350588817 | CBS | CTH |
| SKIV2L | CBS | 0.084407128 | SKIV2L | CBS |
| CBS | SEC24B | 0.141959433 | CBS | SEC24B |
| CBS | UBE3B | 0.112341578 | CBS | UBE3B |
| ABAT | CBS | 0.087219874 | ABAT | CBS |
| ENOPH1 | CBS | 0.07941605 | ENOPH1 | CBS |
| RSU1 | CBS | 0.109530198 | RSU1 | CBS |
| VBP1 | CBS | 0.131457042 | VBP1 | CBS |
| OAT | CBS | 0.205837532 | OAT | CBS |
| CBS | HSPE1 | 0.120076145 | CBS | HSPE1 |
| CBS | CARS | 0.075146014 | CBS | CARS |
| CBS | SEC31A | 0.315077486 | CBS | SEC31A |
| CBS | AP1B1 | 0.114196824 | CBS | AP1B1 |
| CBS | IARS | 0.094117937 | CBS | IARS |
| CBS | NMD3 | 0.113896566 | CBS | NMD3 |
| EEF1A1 | CBS | 0.08288742 | EEF1A1 | CBS |
| ASNS | CBS | 0.110671483 | ASNS | CBS |