RGD Reference Report - A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. - Rat Genome Database

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

Authors: Bull, LN  Van Eijk, MJ  Pawlikowska, L  DeYoung, JA  Juijn, JA  Liao, M  Klomp, LW  Lomri, N  Berger, R  Scharschmidt, BF  Knisely, AS  Houwen, RH  Freimer, NB 
Citation: Bull LN, etal., Nat Genet. 1998 Mar;18(3):219-24.
RGD ID: 1599397
Pubmed: PMID:9500542   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0398-219   (Journal Full-text)

Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21. Haplotype analysis narrowed the candidate region for both diseases to the same interval of less than 1 cM, in which we identified a gene mutated in BRIC and PFIC1 patients. This gene (called FIC1) is the first identified human member of a recently described subfamily of P-type ATPases; ATP-dependent aminophospholipid transport is the previously described function of members of this subfamily. FIC1 is expressed in several epithelial tissues and, surprisingly, more strongly in small intestine than in liver. Its protein product is likely to play an essential role in enterohepatic circulation of bile acids; further characterization of FIC1 will facilitate understanding of normal bile formation and cholestasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
intrahepatic cholestasis susceptibilityIAGP 1599397DNA:mutationRGD 
intrahepatic cholestasis susceptibilityISOATP8B1 (Homo sapiens)1599397; 1599397 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Atp8b1  (ATPase phospholipid transporting 8B1)

Genes (Mus musculus)
Atp8b1  (ATPase, class I, type 8B, member 1)

Genes (Homo sapiens)
ATP8B1  (ATPase phospholipid transporting 8B1)


Additional Information