Pub. Date : 2000 Mar
PMID : 10975791
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, coding for P-type ATPases of unknown physiological function, while a second form (bile salt export pump defective progressive familial intrahepatic cholestatis) is caused by a defective function of the canalicular bile salt export pump. | Bile Acids and Salts | ATPase phospholipid transporting 8B1 | Homo sapiens |
| 2 | FIC1-defective progressive familial intrahepatic cholestasis (previously Byler disease) is determined by mutations in the FIC1 gene, coding for P-type ATPases of unknown physiological function, while a second form (bile salt export pump defective progressive familial intrahepatic cholestatis) is caused by a defective function of the canalicular bile salt export pump. | Bile Acids and Salts | ATPase phospholipid transporting 8B1 | Homo sapiens |
| 3 | Finally, in those children with cholestasis, high serum bile acids and low gamma glutamyltranspeptidase activity, analysis of mutation in FIC1 and bile salt export pump genes may lead to the diagnosis of progressive familial intrahepatic cholestasis either from bile salt export pump or FIC1 deficiency. | Bile Acids and Salts | ATPase phospholipid transporting 8B1 | Homo sapiens |