ATP8B1

ATPase, Class I, type 8B, member 1, also known as ATP8B1, is a human gene.cite web | title = Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5205| accessdate = ] This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis. [cite journal |author=Klomp LW, Vargas JC, van Mil SW, "et al" |title=Characterization of mutations in ATP8B1 associated with hereditary cholestasis |journal=Hepatology |volume=40 |issue=1 |pages=27–38 |year=2004 |month=July |pmid=15239083 |doi=10.1002/hep.20285 |url=]

PBB_Summary
section_title =
summary_text = This gene encodes a member of the P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in cholangiocytes and the canalicular membranes of hepatocytes in the liver. [cite journal |author=Jansen PL, Müller M |title=The molecular genetics of familial intrahepatic cholestasis |journal=Gut |volume=47 |issue=1 |pages=1–5 |year=2000 |month=July |pmid=10861251 |doi= |url=http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=10861251] [cite journal |author=Eppens EF, van Mil SW, de Vree JM, "et al" |title=FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte |journal=J. Hepatol. |volume=35 |issue=4 |pages=436–43 |year=2001 |month=October |pmid=11682026 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0168827801001581] 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.cite web | title = Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5205| accessdate = ] Exactly how mutations result in these diseases is not currently understood.

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Knisely AS |title=Progressive familial intrahepatic cholestasis: a personal perspective. |journal=Pediatr. Dev. Pathol. |volume=3 |issue= 2 |pages= 113–25 |year= 2000 |pmid= 10679031 |doi=
*cite journal | author=Harris MJ, Le Couteur DG, Arias IM |title=Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters. |journal=J. Gastroenterol. Hepatol. |volume=20 |issue= 6 |pages= 807–17 |year= 2006 |pmid= 15946126 |doi= 10.1111/j.1440-1746.2005.03743.x
*cite journal | author=Clayton RJ, Iber FL, Ruebner BH, McKusick VA |title=Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. |journal=Am. J. Dis. Child. |volume=117 |issue= 1 |pages= 112–24 |year= 1969 |pmid= 5762004 |doi=
*cite journal | author=Carlton VE, Knisely AS, Freimer NB |title=Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. |journal=Hum. Mol. Genet. |volume=4 |issue= 6 |pages= 1049–53 |year= 1995 |pmid= 7655458 |doi=
*cite journal | author=Houwen RH, Baharloo S, Blankenship K, "et al." |title=Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. |journal=Nat. Genet. |volume=8 |issue= 4 |pages= 380–6 |year= 1995 |pmid= 7894490 |doi= 10.1038/ng1294-380
*cite journal | author=Bull LN, van Eijk MJ, Pawlikowska L, "et al." |title=A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. |journal=Nat. Genet. |volume=18 |issue= 3 |pages= 219–24 |year= 1998 |pmid= 9500542 |doi= 10.1038/ng0398-219
*cite journal | author=Halleck MS, Pradhan D, Blackman C, "et al." |title=Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. |journal=Genome Res. |volume=8 |issue= 4 |pages= 354–61 |year= 1998 |pmid= 9548971 |doi=
*cite journal | author=Tygstrup N, Steig BA, Juijn JA, "et al." |title=Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. |journal=Hepatology |volume=29 |issue= 2 |pages= 506–8 |year= 1999 |pmid= 9918928 |doi= 10.1002/hep.510290214
*cite journal | author=Halleck MS, Lawler JF JR, Blackshaw S, "et al." |title=Differential expression of putative transbilayer amphipath transporters. |journal=Physiol. Genomics |volume=1 |issue= 3 |pages= 139–50 |year= 2001 |pmid= 11015572 |doi=
*cite journal | author=Klomp LW, Bull LN, Knisely AS, "et al." |title=A missense mutation in FIC1 is associated with greenland familial cholestasis. |journal=Hepatology |volume=32 |issue= 6 |pages= 1337–41 |year= 2001 |pmid= 11093741 |doi= 10.1053/jhep.2000.20520
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Harris MJ, Arias IM |title=FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. |journal=Biochim. Biophys. Acta |volume=1633 |issue= 2 |pages= 127–31 |year= 2003 |pmid= 12880872 |doi=
*cite journal | author=Chen F, Ananthanarayanan M, Emre S, "et al." |title=Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. |journal=Gastroenterology |volume=126 |issue= 3 |pages= 756–64 |year= 2004 |pmid= 14988830 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Demeilliers C, Jacquemin E, Barbu V, "et al." |title=Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. |journal=Hepatology |volume=43 |issue= 5 |pages= 1125–34 |year= 2006 |pmid= 16628629 |doi= 10.1002/hep.21160

External links

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