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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
homocystinuria
Summary
- Synonym
-
- CBS deficiency
- cystathionine beta synthase deficiency
- cystathionine synthase deficiency
- Definition
- An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
- Super Class
- amino acid metabolic disorder
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 847 | CAT | catalase | |
| 1581 | CYP7A1 | cytochrome P450 family 7 subfamily A member 1 | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 10400 | PEMT | phosphatidylethanolamine N-methyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00767 | Stearoyl-CoA desaturase | |
| P04040 | Catalase | |
| P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
| P49419 | Alpha-aminoadipic semialdehyde dehydrogenase |
