Aldolase

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).

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.

Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.

Belongs to the class I fructose-bisphosphate aldolase family.

• 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+).

ALDA, ALDOA, Fructose-bisphosphate aldolase A, Lung cancer antigen NY-LU-1, Muscle-type aldolase

• entrezGene:226
• omim:103850
• swissprot:P04075

Proteins

Metabolism

39420Da