Samiksha Jaiswal

ATP8B1

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Species  Human
Entrez  5205
Human  Mouse
Ensembl  ENSG00000081923
ATP8B1
Aliases  ATP8B1, ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1, ATPase phospholipid transporting 8B1
External IDs  MGI: 1859665 HomoloGene: 21151 GeneCards: ATP8B1

Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene. This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.

Function

This gene encodes a member of the P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in cholangiocytes and the canalicular membranes of hepatocytes in the liver. 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. Exactly how mutations result in these diseases is not currently understood.

References

ATP8B1 Wikipedia


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