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Details of PFKM gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PFKM | PFKX | P08237 | K6PF_HUMAN | 5213 | ENSG00000152556 | 6-phosphofructokinase, muscle type | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. Note=The disease is caused by mutations affecting the gene represented in this entry. | 232800 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of blood and blood-forming tissues, Abnormality of erythrocytes, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of muscle fibers, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of nucleobase metabolism, Abnormality of purine metabolism, Abnormality of reticulocytes, Abnormality of skeletal morphology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the foot, Abnormality of the gallbladder, Abnormality of the genitourinary system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal joint morphology, Adult onset, Age of onset, All, Anemia, Anemia due to reduced life span of red cells, Arthritis, Autosomal recessive inheritance, Cholelithiasis, Cholestasis, Dermatological manifestations of systemic disorders, Exercise-induced muscle cramps, Exercise intolerance, Functional motor problems., Generalized abnormality of skin, Gout, Hemolytic anemia, Hyperbilirubinemia, Hyperuricemia, Increased muscle glycogen content, Increased purine levels, Increased total bilirubin, Jaundice, Mode of inheritance, Muscle cramps, Muscle weakness, Myoglobinuria, Onset, Onset and clinical course, Phenotypic abnormality, Phenotypic variability, Reticulocytosis, Variable expressivity.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Pfkm | Pfk | pfk-1 | Sp-Pfkm | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PFKL | PFKM | 1 | PFKL | PFKM | cpx407 | no | yes | yes | Known |
| PFKM | PSMG1 | 0.131079879 | PFKM | PSMG1 | cpx407 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| SFPQ | PFKM | 0.086788197 | SFPQ | PFKM |
| PFKM | PRRC1 | 0.075563013 | PFKM | PRRC1 |
| PSMD5 | PFKM | 0.096189824 | PSMD5 | PFKM |
| PFKM | SUMO3 | 0.099177664 | PFKM | SUMO3 |
| SARS | PFKM | 0.076861902 | SARS | PFKM |
| PFKM | ARFIP1 | 0.106890589 | PFKM | ARFIP1 |
| CPPED1 | PFKM | 0.070946781 | CPPED1 | PFKM |
| SNW1 | PFKM | 0.073093798 | SNW1 | PFKM |
| PFKM | CTH | 0.080821131 | PFKM | CTH |
| PFKM | PICALM | 0.101568882 | PFKM | PICALM |
| ELAC2 | PFKM | 0.096710237 | ELAC2 | PFKM |
| PFKM | XPO6 | 0.106110608 | PFKM | XPO6 |
| ARFIP2 | PFKM | 0.09372251 | ARFIP2 | PFKM |
| PKM | PFKM | 0.08079309 | PKM | PFKM |
| PFKM | MCFD2 | 0.092350988 | PFKM | MCFD2 |
| C4orf27 | PFKM | 0.097340535 | C4orf27 | PFKM |
| TRIM25 | PFKM | 0.134275669 | TRIM25 | PFKM |
| PFKM | APEH | 0.095692923 | PFKM | APEH |
| FAM98A | PFKM | 0.088071363 | FAM98A | PFKM |
| PFKM | YOD1 | 0.077544151 | PFKM | YOD1 |
| FERMT2 | PFKM | 0.084075236 | FERMT2 | PFKM |
| AURKA | PFKM | 0.132871394 | AURKA | PFKM |
| PFKM | EEF1A1 | 0.073069306 | PFKM | EEF1A1 |
| COMMD4 | PFKM | 0.154695502 | COMMD4 | PFKM |
| ARHGDIA | PFKM | 0.076935273 | ARHGDIA | PFKM |
| MAPK1 | PFKM | 0.118567688 | MAPK1 | PFKM |
| PTPRF | PFKM | 0.132941602 | PTPRF | PFKM |