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

Gene: LOC100505549

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs12968116 in ATP8B1;LOC100505549 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs121909103 in ATP8B1;LOC100505549 gene and CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 PMID 15888793 2005 ATP8B1 mutations in British cases with 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 15657619 2005 Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.

rs1438249656 in ATP8B1;LOC100505549 gene and Cholestasis, progressive familial intrahepatic 1 PMID 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

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 20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.

rs17686020 in ATP8B1;LOC100505549 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12968116 in ATP8B1;LOC100505549 gene and Serum gamma-glutamyl transferase measurement PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.