PFKM Chromosome 12
Phosphofructokinase, muscle
Upload your DNA to see your personal genotypes for variants in PFKM.
What This Gene Does
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.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes|Phosphofructokinase family"
Locus Type
gene with protein product
Location
12q13.11
Ensembl
ENSG00000152556
Associated Conditions (9)
Glycogen storage disease
type VII
PFKM-related disorder
Inborn genetic diseases
Peroxisomal biogenesis disorder 3b
Rhabdomyolysis
Thyroid cancer
nonmedullary
1
Key Variants
RS1313998695
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS140473672
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, PFKM-related disorder
Health Risk
RS1417385697
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS144370737
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS1555206566
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS201190252
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Inborn genetic diseases
Health Risk
RS2135915213
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS367783282
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS370046842
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS371033104
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS374547385
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
RS376150217
Conflicting classifications of pathogenicity
Glycogen storage disease, type VII, Glycogen storage disease
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2498458835 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498494038 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498510980 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498556266 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498608130 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498638969 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498639015 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2540764901 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2540854316 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2540899502 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS767095759 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS895690691 | Health Risk | Pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS1064795749 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS1202417178 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS121918195 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS1233958453 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS1392144132 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS1430517061 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS187131358 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2135995131 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498539706 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS2498573232 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS41291965 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS770066278 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS866260025 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |
| RS866904446 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type VII, Glycogen storage disease |