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

rs7239484 in ATP8B1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2663842 in ATP8B1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs56355310 in ATP8B1 gene and CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 PMID 15888793 2005 ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.

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.

rs111033609 in ATP8B1 gene and Cholestasis, benign recurrent intrahepatic 1 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 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

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

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

rs111033609 in ATP8B1 gene and Cholestasis, progressive familial intrahepatic 1 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 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 23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.

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

rs7239484 in ATP8B1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.