Entrez gene ID | | 5213 |
Official gene symbol | | PFKM |
Full name | | phosphofructokinase, muscle |
Aliases | | ,GSD7,MGC8699,PFK-1,PFK1,PFKA,PFKX, |
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. |
Location | | Chromosome: 12 Locus: 12q13.3 |
Gene position | | 48499656 - 48540187 Map Viewer |
Gene orientation | | plus |
Gene size | | 40532 bp |
Gene sequence |
| |
OMIM ID | | 610681 |
|