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PFKL information


PFKL
Identifiers
AliasesPFKL, ATP-PFK, PFK-B, PFK-L, phosphofructokinase, liver type
External IDsOMIM: 171860 MGI: 97547 HomoloGene: 55668 GeneCards: PFKL
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001002021
NM_002626

NM_008826
NM_001358793

RefSeq (protein)

NP_001002021
NP_002617
NP_001002021.2
NP_002617.3

NP_032852
NP_001345722

Location (UCSC)Chr 21: 44.3 – 44.33 MbChr 10: 77.82 – 77.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

6-phosphofructokinase, liver type (PFKL) is an enzyme that in humans is encoded by the PFKL gene on chromosome 21.[5] This gene encodes the liver (L) isoform of phosphofructokinase-1, an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014][5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141959 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020277 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: PFKL phosphofructokinase, liver".

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PFKL

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6-phosphofructokinase, liver type (PFKL) is an enzyme that in humans is encoded by the PFKL gene on chromosome 21. This gene encodes the liver (L) isoform...

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Phosphofructokinase

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PFK is found in isoform versions in skeletal muscle (PFKM), in the liver (PFKL), and from platelets (PFKP), allowing for tissue-specific expression and...

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PFKM

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second subunit type, PFKL, while the erythrocyte PFK includes five isozymes composed of different combinations of PFKM and PFKL. These subunits evolved...

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Phosphofructokinase 1

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role in glycolysis There are three phosphofructokinase genes in humans: PFKL – liver PFKM – muscle PFKP – platelet A genetic mutation in the PFKM gene...

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Chromosome 21

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3',5'-cyclic phosphodiesterase 9A PDXK: encoding enzyme Pyridoxal kinase PFKL: encoding enzyme ATP-dependent 6-phosphofructokinase, liver type PIGP: encoding...

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Inborn errors of carbohydrate metabolism

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Phosphofructo-kinase 1 (Not involved in glyconeogenesis) PFKM: Muscle, also RBCs PFKL: Liver, also RBCs GSD type VII (GSD 7, Tarui's Disease, Phosphofructokinase...

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Phosphofructokinase deficiency

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Phosphofructokinase is a tetrameric enzyme that consists of three types of subunits: PFKL (liver), PFKM (muscle), and PFKP (platelet). The combination of these subunits...

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ZTTK syndrome

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organisation (TUBG1, FLNA, PNKP, WDR62, PSMD3, HDAC6) and metabolism (PCK2, PFKL, IDH2, ACY1, and ADA). Aberrant SON-mediated RNA splicing results from the...

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Fructokinase

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deficiency, levulosuria and ketohexokinase deficiency. Hepatic fructokinase PFKL PFKM PFKP Glucokinase Hexokinase DBGET ENZYME: 2.7.1.4 Archived 27 September...

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PFKP

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is also expressed in fibroblasts. See also the muscle (PFKM) and liver (PFKL) isoforms of phosphofructokinase, which map to chromosomes 12q13 and 21q22...

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Tumor hypoxia

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(GLUT1), hexokinase (HK), phosphoglucose isomerase (PGI), phosphofructokinase (PFKL), fructose-bisphosphate aldolase (ALDO), glyceraldehyde-3-phosphate dehydrogenase...

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