GenTIGSA Gene Database on Rare Genetic Disorders

Aldolase, fructose-bisphosphate B (ALDOB) Associated conditions:  1. Hereditary fructosuria 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_000035.4 NP_000026.2 NC_000009.12 (101420559..101435773, complement) Reference GRCh38.p14 Primary Assembly P05062

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 173 reference articles

Variant Information Aldolase, fructose-bisphosphate B (ALDOBMutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Aldolase, fructose-bisphosphate B (ALDOB)
ClinVar variants:Revealing mutagenic patterns

GO Term of Aldolase, fructose-bisphosphate B (ALDOB)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIBAenablesfructose-bisphosphate aldolase activityFunction21873635 
2Homo sapiensIDAenablesfructose-bisphosphate aldolase activityFunction9244396 10625657 10970798 
17576770 35122041 
3Homo sapiensIPIenablesprotein bindingFunction18000879 35122041 
4Homo sapiensIDAlocated_inmicrotubule organizing centerComponent18000879 
5Homo sapiensIBAis_active_incytosolComponent21873635 
6Homo sapiensIDAlocated_incytosolComponent35122041 
7Homo sapiensTASlocated_incytosolComponent
8Homo sapiensIMPinvolved_infructose metabolic processProcess3383242 
9Homo sapiensIEAinvolved_ingluconeogenesisProcess
10Homo sapiensIBAinvolved_inglycolytic processProcess21873635 
11Homo sapiensIDAinvolved_inglycolytic processProcess10625657 10970798 
12Homo sapiensIEAinvolved_inglycolytic processProcess
13Homo sapiensIDAinvolved_inNADH oxidationProcess17576770 
14Homo sapiensIDAenablescytoskeletal protein bindingFunction9244396 
15Homo sapiensIBAinvolved_infructose 1,6-bisphosphate metabolic processProcess21873635 
16Homo sapiensIDAinvolved_infructose 1,6-bisphosphate metabolic processProcess9244396 10625657 
17Homo sapiensIGIinvolved_inpositive regulation of ATP-dependent activityProcess17576770 
18Homo sapiensIDAlocated_incentriolar satelliteComponent18000879 
19Homo sapiensIPIenablesidentical protein bindingFunction10625657 
20Homo sapiensIDAenablesATPase bindingFunction17576770 
21Homo sapiensIDAenablesmolecular adaptor activityFunction35122041 
22Homo sapiensIBAenablesfructose-1-phosphate aldolase activityFunction21873635 
23Homo sapiensIDAenablesfructose-1-phosphate aldolase activityFunction2649152 10970798 
24Homo sapiensIEAinvolved_infructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphateProcess
25Homo sapiensIMPenablesfructose bindingFunction10625657 
26Homo sapiensHDAlocated_inextracellular exosomeComponent23533145 
27Homo sapiensIGIinvolved_invacuolar proton-transporting V-type ATPase complex assemblyProcess17576770 
28Homo sapiensIMPinvolved_innegative regulation of pentose-phosphate shuntProcess35122041