Fructose-1,6-Bisphosphatase 1

Alternative Names

  • FBP1
  • Fructose-1,6-Bisphosphatase, Liver
  • Fructose-1,6-Diphosphatase
Back to search Result
OMIM Number

611570

NCBI Gene ID

2203

Uniprot ID

P09467

Length

37,131 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Fructose-1,6-bisphosphatase 1

Molecular Mass

36842 Da

Amino Acid Count

338

Genomic Location

chr9:94,603,132-94,640,262

Gene Map Locus
9q22.32

Description

Hepatic fructose-1,6-bisphosphatase (FBP1) is a gluconeogenesis regulatory enzyme which catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate.

Molecular Genetics

The FBP1 gene, located at chromosome 9q22.2-q22.3, contains 7 exons and spans more than 31 kb. The mature protein produced by this genes consists of 338 amino acids.

Mutation of the FBP1 gene causes deficiency of fructose-1,6-bisphosphatase which is associated with fasting hypoglycemia and metabolic acidosis due to impaired gluconeogenesis.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000507.4:c.616_619delUnited Arab EmiratesNC_000009.12:g.94606905_94606908delLikely PathogenicFructose-1,6-Bisphophatase DeficiencyNG_008174.1:g.38346_38349del; NM_000507.4:c.616_619del; NP_000498.2:p.Lys206ValfsTer70

Other Reports

Morocco

Prahl et al. (2006) described a family from Morocco with parental consanguinity with three affected children. All were homozygous for a novel mutation in exon 5: 685 C>T of the gene coding for the liver isoform of fructose 1,6-bisphosphatase (FBP1). The mutation changed the amino acid codon (Q229X) from a glutamine (CAG) in position 229 to a stop codon (TAG), which caused a shortening of the protein from the normal 338 amino acids to 228. The shortened protein lacks a major part of the active site and is therefore probably without enzymatic activity.

Saudi Arabia

Faiyaz-Ul-Haque et al. (2009) studied five consanguineous Arab families, in which 17 patients were clinically diagnosed with FBP deficiency. Seven patients and six carrier parents were analyzed for mutations in the FBP1 gene. DNA sequencing of the FBP1 gene identified two novel mutations in these families. A novel six nucleotide repetitive insertion, c114_119dupCTGCAC, was identified in patients from three families. This mutation encodes for a duplication of two amino acids (p.Cys39_Thr40dup) in the N-terminal domain of FBP1. A novel nonsense c.841G>T mutation encoding for a p.Glu281X truncation in the active site of FBP1 was discovered in patients from two families. The newly identified mutations in the FBP1 gene are predicted to produce FBP1 deficiency. Faiyaz-Ul-Haque et al. (2009) indicated that the p.Cys39_Thr40dup mutation was the first reported amino acid duplication in FBP deficiency patients.

© CAGS 2024. All rights reserved.