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Gene: PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1) Homo sapiens
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Symbol: PFKFB1
Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Description: This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1; 6PF-2-K/Fru-2,6-P2ase 1; 6PF-2-K/Fru-2,6-P2ASE liver isozyme; F6PK; fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase; HL2K; MGC116715; MGC116717; PFK/FBPase 1; PFRX
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X54,932,961 - 55,000,052 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X54,959,307 - 55,025,244 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X54,976,315 - 55,037,236 (-)NCBINCBI36hg18NCBI36
Build 34X54,842,610 - 54,903,532NCBI
CeleraX58,794,738 - 58,855,654 (-)NCBI
Cytogenetic MapXp11.21NCBI
HuRefX52,011,285 - 52,075,912 (-)NCBIHuRef
CHM1_1X54,949,616 - 55,015,006 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PFKFB1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 732809
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.