Gene: LOC105372141

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ATP8B1

Alternate names for this Gene: ATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.31

Description of this Gene: ATPase phospholipid transporting 8B1

Type of Gene: protein-coding

rs146599962 in LOC105372141;ATP8B1 gene and CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 PMID 15657619 2005 Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.

PMID 19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.

PMID 15888793 2005 ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.