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 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
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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2. |
Li B et al. (2014) Fructose-1,6-bisphosphatase opposes renal carcinoma progression.
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3. |
Rios J et al. (2010) Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
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4. |
Mannucci L et al. (2007) Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
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5. |
Rees DC et al. (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.
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6. |
Yang C et al. (2004) Disruption of cholesterol homeostasis by plant sterols.
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7. |
None (2003) Role of ABC transporters in secretion of cholesterol from liver into bile.
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8. |
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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9. |
Yu L et al. (2002) Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.
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10. |
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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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. |
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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13. |
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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14. |
Lee MH et al. (2001) Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
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15. |
Berge KE et al. (2000) Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
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16. |
Tillmann H et al. (1998) Isolation and characterization of an allelic cDNA for human muscle fructose-1,6-bisphosphatase.
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17. |
Kikawa Y et al. (1997) Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.
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18. |
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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19. |
Kikawa Y et al. (1995) Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency.
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20. |
Sia CL et al. (1969) Studies on the subunit structure of rabbit liver fructose diphosphatase.
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21. |
NCBI article
NCBI 2203
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22. |
OMIM.ORG article
Omim 611570
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23. |
Orphanet article
Orphanet ID 121763
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24. |
Wikipedia article
Wikipedia EN (FBP1)
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Update: Aug. 14, 2020