AlphaFold predicted structure
ALDOA · P04075
Mean pLDDT
96.4/ 100
Very high
364 residues
Confidence breakdown
- Very high(≥ 90)93%
- Confident(70–90)4%
- Low(50–70)3%
- Very low(< 50)0%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
ALDOA
Chr 16p11.2aldolase, fructose-bisphosphate A
- MANE:
- ENST00000642816.3
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Acute rhabdomyolysis
BIALLELIC, autosomal or pseudoautosomalCytopenias and congenital anaemias
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlycogen storage disease
BIALLELIC, autosomal or pseudoautosomalKetotic hypoglycaemia
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalRare anaemia
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
glycogen storage disease due to aldolase A deficiency
0.82disorder of glycogen metabolism
0.63Glycogen storage disease due to glycogenin deficiency
0.63neurodegenerative disease
0.31hereditary disease
0.19ovarian neoplasm
0.13hepatocellular carcinoma
0.11neoplasm
0.11colorectal carcinoma
0.11cancer
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Fructose-bisphosphate aldolase A
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, also functions as a scaffolding protein (By similarity). In response to glucose deprivation, FBP dissociates from aldolase and acts as an adapter that promotes AMP-activated protein kinase (AMPK) activity: mechanistically, associates with transient receptor potential channels TrpV (TRPV1-TRPV4), promoting inhibition of the V-ATPase complex on lysosomes and AMPK activation via the AXIN1-STK11/LKB1 axis (By similarity)