Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Fructose-1,6-Bisphosphatase 1

Die vom FBP1-Gen kodierte Fruktose-1,6-Bisphosphatase 1 ist ein Enzym des Fruktosestoffwechsels der Leber. Mutationen führen zur autosomal rezessiven Erkrankung des Fruktose-1,6-Bisphosphatase-Mangels, der sich in Hypoglycämie und metabolischer Azidose äußert.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Fruktose-1,6-Bisphosphatase-Mangel
FBP1

Referenzen:

1.

Sia CL et al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.

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2.

el-Maghrabi MR et al. (1995) Human fructose-1,6-bisphosphatase gene (FBP1): exon-intron organization, localization to chromosome bands 9q22.2-q22.3, and mutation screening in subjects with fructose-1,6-bisphosphatase deficiency.

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3.

Kikawa Y et al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.

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4.

Rothschild CB et al. (1995) Fructose-1,6-bisphosphatase: genetic and physical mapping to human chromosome 9q22.3 and evaluation in non-insulin-dependent diabetes mellitus.

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5.

Kikawa Y et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

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6.

Tillmann H et al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.

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7.

Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

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8.

Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

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9.

Lu K et al. (2001) Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

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10.

Repa JJ et al. (2002) Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.

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11.

Lu K et al. (2002) Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8.

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12.

Matsuura T et al. (2002) Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency.

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13.

Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

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14.

Sehayek E et al. (2002) Loci on chromosomes 14 and 2, distinct from ABCG5/ABCG8, regulate plasma plant sterol levels in a C57BL/6J x CASA/Rk intercross.

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15.

None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.

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16.

Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.

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17.

Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

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18.

Mannucci L et al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

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19.

Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

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20.

Li B et al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.

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21.

NCBI article

NCBI 2203 [^]
22.

OMIM.ORG article

Omim 611570 [^]
23.

Orphanet article

Orphanet ID 121763 [^]
Update: 9. Mai 2019