ALDOA lactyl K147
Function
Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, may also function as scaffolding protein (By similarity).
Involvement in disease
Glycogen storage disease 12
GSD12
A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.
Sequence Similarities
Belongs to the class I fructose-bisphosphate aldolase family.
Cellular localization
- Cytoplasm
- Myofibril
- Sarcomere
- I band
- Cytoplasm
- Myofibril
- Sarcomere
- M line
- In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+).
Alternative names
ALDA, ALDOA, Fructose-bisphosphate aldolase A, Lung cancer antigen NY-LU-1, Muscle-type aldolase