ALDOC
Chr 17aldolase, fructose-bisphosphate C
Also known as: ALDC
The protein catalyzes the reversible conversion of fructose-1,6-bisphosphate into two triose phosphates and plays a key role in glycolysis and gluconeogenesis, with specific expression in hippocampus and Purkinje cells. Mutations cause disease through a dominant-negative mechanism. The inheritance pattern and specific disease phenotype are not established in the provided data.
Some data sources returned errors (1)
gnomad: Error: gnomAD API error: 502
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
62 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 43 | 4 | 0 | 47 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 44 | 11 | 2 | 57 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ALDOC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools