Gene: LOC100505549

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

rs121909098 in LOC100505549;ATP8B1 gene and Cholestasis, benign recurrent intrahepatic 1 PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of 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 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

rs121909098 in LOC100505549;ATP8B1 gene and Cholestasis, progressive familial intrahepatic 1 PMID 15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

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

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

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 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 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

PMID 9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.

PMID 19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

PMID 26879107 2016 Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.

rs17759233 in LOC100505549;ATP8B1 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.

rs515726137 in LOC100505549;ATP8B1 gene and Multiple congenital anomalies PMID 23060447 2012 Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.

PMID 25737299 2015 Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

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

PMID 19479804 2009 Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.

PMID 19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

PMID 20852622 2010 Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.

rs56950313 in LOC100505549;ATP8B1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.