6-phosphofructokinase, muscle type is an enzyme that in humans is encoded by the PFKM gene on chromosome 12. Three phosphofructokinase isozymes exist in humans:...

mutations in the gene that encodes for PFKM have been reported in humans, but the result is production of PFKM subunits with little to no function. As...

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

phosphofructokinase genes in humans: PFKL – liver PFKM – muscle PFKP – platelet A genetic mutation in the PFKM gene results in Tarui's disease, which is a glycogen...

combinations of PFKL and the second subunit type, PFKM. The muscle isozyme (PFK-1) is composed solely of PFKM. These subunits evolved from a common prokaryotic...

delay follows. GSD VII / GSD 7 (Tarui's disease) Muscle phosphofructokinase (PFKM) 1 in 1,000,000 No No No Exercise-induced muscle cramps and weakness developmental...

NLM/GHR:GPID OMIM:GPID ORPHA:GPID Hemolytic anemia. Step 3 Phosphofructokinase 1 PFKM 610681 Muscle, also RBCs Phosphofructokinase deficiency (GSD type VII, GSD...

HGNC:8874 Q16875 11993 PFKFB4 HGNC:8875 Q16877 11994 PFKL HGNC:8876 P17858 11995 PFKM HGNC:8877 P08237 11996 PFKP HGNC:8878 Q01813 11997 PFN1 HGNC:8881 P07737...

deficiency, levulosuria and ketohexokinase deficiency. Hepatic fructokinase PFKL PFKM PFKP Glucokinase Hexokinase DBGET ENZYME: 2.7.1.4 Archived 27 September 2007...

lethal congenital; 261740; PRKAG2 Glycogen storage disease VII; 232800; PFKM Glycogen storage disease X; 261670; PGAM2 Glycogen storage disease XI; 612933;...

to chromosome 10p, is also expressed in fibroblasts. See also the muscle (PFKM) and liver (PFKL) isoforms of phosphofructokinase, which map to chromosomes...

associated with preserved hearing. ATP6V0A4 has been shown to interact with PFKM. GRCh38: Ensembl release 89: ENSG00000105929 – Ensembl, May 2017 GRCm38:...