Cloned (Comment) | Organism |
---|---|
CFTR genotyping in the Jewish and Arab population in Israel | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
D1152H | mutation in the CFTR gene causing cystic fibrosis | Homo sapiens |
additional information | mutations in the CFTR gene cause cystic fibrosis, phenotypes in the Jewish and Arab population in Israel, overview | Homo sapiens |
W1282X | mutation in the CFTR gene causing cystic fibrosis | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Jewish and Arab population in Israel | - |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
pancreas | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | the enzyme shows ATPase and chloride channel activities | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
CFTR | - |
Homo sapiens |
cystic fibrosis transmembrane conductance regulator | - |
Homo sapiens |