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 -

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 180 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 activityFunction
2Homo sapiensIDAenablesfructose-bisphosphate aldolase activityFunction9244396 10625657 10970798 
17576770 35122041 
3Homo sapiensIEAenablesfructose-bisphosphate aldolase activityFunction
4Homo sapiensIPIenablesprotein bindingFunction18000879 21988832 33961781 
35122041 
5Homo sapiensIDAlocated_inmicrotubule organizing centerComponent18000879 
6Homo sapiensIBAis_active_incytosolComponent
7Homo sapiensIDAlocated_incytosolComponent35122041 
8Homo sapiensIEAis_active_incytosolComponent
9Homo sapiensIEAlocated_incytosolComponent
10Homo sapiensTASlocated_incytosolComponent
11Homo sapiensIEAinvolved_infructose metabolic processProcess
12Homo sapiensIMPinvolved_infructose metabolic processProcess3383242 
13Homo sapiensIEAinvolved_infructose catabolic processProcess
14Homo sapiensIEAinvolved_ingluconeogenesisProcess
15Homo sapiensIBAinvolved_inglycolytic processProcess
16Homo sapiensIDAinvolved_inglycolytic processProcess10625657 10970798 
17Homo sapiensIEAinvolved_inglycolytic processProcess
18Homo sapiensIDAenablescytoskeletal protein bindingFunction9244396 
19Homo sapiensIEAenableslyase activityFunction
20Homo sapiensIBAinvolved_infructose 1,6-bisphosphate metabolic processProcess
21Homo sapiensIDAinvolved_infructose 1,6-bisphosphate metabolic processProcess9244396 10625657 
22Homo sapiensIEAinvolved_infructose 1,6-bisphosphate metabolic processProcess
23Homo sapiensIDAlocated_incentriolar satelliteComponent18000879 
24Homo sapiensIEAlocated_incentriolar satelliteComponent
25Homo sapiensIPIenablesidentical protein bindingFunction10625657 
26Homo sapiensIDAenablesATPase bindingFunction17576770 
27Homo sapiensIDAenablesmolecular adaptor activityFunction35122041 
28Homo sapiensIBAenablesfructose-1-phosphate aldolase activityFunction
29Homo sapiensIDAenablesfructose-1-phosphate aldolase activityFunction2649152 10970798 
30Homo sapiensIEAenablesfructose-1-phosphate aldolase activityFunction
31Homo sapiensIEAinvolved_infructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphateProcess
32Homo sapiensIEAenablesfructose bindingFunction
33Homo sapiensIMPenablesfructose bindingFunction10625657 
34Homo sapiensHDAlocated_inextracellular exosomeComponent23533145 
35Homo sapiensIMPinvolved_invacuolar proton-transporting V-type ATPase complex assemblyProcess17576770 
36Homo sapiensIMPinvolved_innegative regulation of pentose-phosphate shuntProcess35122041