Gene Symbol | ATP8B1 |
Entrez Gene ID | 5205 |
Full Name | ATPase phospholipid transporting 8B1 |
Synonyms | ATPIC,BRIC,FIC1,ICP1,PFIC,PFIC1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cholestasis, progressive familial intrahepatic 1, 211600 (3); Cholestasis, benign recurrent intrahepatic, 243300 (3); Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) |