FBP2
Function
Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.
Involvement in disease
Leukodystrophy, childhood-onset, remitting
CORLK
An autosomal dominant disorder characterized by loss of developmental abilities, demyelination and leukodystrophy on brain imaging, triggered by fever or infection in the first year of life. Abnormalities almost completely resolve over a period of 1 to 2 years, and affected children regain normal development accompanied by remyelination.
None
The disease may be caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate biosynthesis; gluconeogenesis.
Sequence Similarities
Belongs to the FBPase class 1 family.
Tissue Specificity
Expressed in skeletal muscle (at protein level).
Cellular localization
- Cell junction
- Cytoplasm
- Nucleus
- Cytoplasm
- Myofibril
- Sarcomere
- Z line
- In neonatal cardiomyocytes, distributed throughout the cytosol, accumulating in the intercalated disks which occur at the Z line of cardiomyocytes and connect adjacent cells, and also located in the nucleus; dissociates from the Z line following an increase in cytosolic Ca(2+) concentration (By similarity). In muscle precursor cells, localizes predominantly to the nucleus and to a lesser extent to the cytoplasm at the proliferative phase, while mainly localizing to the cytoplasm at the differentiation phase (By similarity). Colocalizes with ALDOA and alpha-actinin on both sides of the Z line of skeletal muscle; dissociates rapidly from the Z line following an increase in cytosolic Ca(2+) concentration.
Alternative names
FBPase 2, Muscle FBPase, FBP2