Cloned (Comment) | Organism |
---|---|
activin receptor-like kinase 1 gene, ALK1 is located on chromosome 12q13, DNA and amino acid sequence determination of wild-type and mutant enzymes, genotyping | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
H312Q | naturally occuring mutation in Japanese pulmonary arterial hypertension patients | Homo sapiens |
L381P | naturally occuring mutation in Japanese pulmonary arterial hypertension patients | Homo sapiens |
additional information | ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients, determination of polymorphisms in Japanese pulmonary arterial hypertension patients, phenotypes, overview | Homo sapiens |
R479Q | naturally occuring mutation in Japanese pulmonary arterial hypertension patients | Homo sapiens |
R484Q | naturally occuring mutation in Japanese pulmonary arterial hypertension patients | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P37023 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | ALK1 mutations cause hereditary hemorrhagic telangiectasia in association with pulmonary arterial hypertension, PAH, in patients | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
activin receptor-like kinase 1 gene | - |
Homo sapiens |
ALK1 | - |
Homo sapiens |
BMPR2 | - |
Homo sapiens |
bone morphogenetic protein receptor II gene | - |
Homo sapiens |