FBP1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- FBP1 (HGNC:3606) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- fructose-bisphosphatase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- FBP
- Alias symbols
- No aliases found
- %HI
- 36.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.08(Read more about gnomAD pLI score)
- LOEUF
- 0.72(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.32
- Genomic Coordinates
-
GRCh37/hg19: chr9:97365415-97402545 NCBI Ensembl UCSC GRCh38/hg38: chr9:94603133-94640263 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000507.4 ENST00000375326.9 (Read more about MANE Select)
- Function
- Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations, acting as a rate-limiting enzyme in gluconeogenesis. Plays a role in regulating glucose sensing and insulin secretion of pancreatic beta-cells. Appears to modulate glycerol gluconeogenesis in liver. Important regulator of appetite and adiposity; increased expression of the protein in liver after nutrient excess increases circulating satiety hormones and reduces appetite-stimulating ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-489
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- fructose-1,6-bisphosphatase deficiency Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)