Gene: PFKM

Alternate names for this Gene: ATP-PFK|GSD7|PFK-1|PFK-A|PFK1|PFKA|PFKX|PPP1R122

Gene Summary: Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.11

Description of this Gene: phosphofructokinase, muscle

Type of Gene: protein-coding

rs767095759 in PFKM gene and Glycogen Storage Disease PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.

PMID 9389749 1997 Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.

PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

rs121918193 in PFKM gene and Glycogen Storage Disease Type VII PMID 7825568 1995 Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

PMID 8889589 1996 Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.

PMID 22133655 2012 Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

PMID 24427140 2013 First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.

PMID 7513946 1994 Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

PMID 8037209 1994 Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

PMID 8880699 1996 Muscle phosphofructokinase deficiency in two generations.

rs4760682 in PFKM gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4760682 in PFKM gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4760682 in PFKM gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12306290 in PFKM gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.