Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fructose-1,6-bisphosphatase 1

FBP1 gene encodes fructose-1,6-bisphosphatase 1 a liver enzyme involved in fructose metabolism. Fructose-1,6-diphosphatase deficiency is an autosomal recessive disorder caused by mutations which is characterized by hypoglycemia and metabolic acidosis.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Fructose-1,6-bisphosphatase deficiency
FBP1

References:

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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Update: Sept. 26, 2018