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Aliases for ALDOA Gene

Aliases for ALDOA Gene

  • Aldolase, Fructose-Bisphosphate A 2 3 5
  • Aldolase A, Fructose-Bisphosphate 2 3
  • Lung Cancer Antigen NY-LU-1 3 4
  • Muscle-Type Aldolase 3 4
  • EC 4 56
  • ALDA 3 4
  • Epididymis Secretory Sperm Binding Protein Li 87p 3
  • Fructose-1,6-Bisphosphate Triosephosphate-Lyase 3
  • Fructose-Bisphosphate Aldolase A 3
  • HEL-S-87p 3
  • GSD12 3

External Ids for ALDOA Gene

Previous GeneCards Identifiers for ALDOA Gene

  • GC16M029079
  • GC16P030386
  • GC16P030062
  • GC16P030102
  • GC16P029971
  • GC16P027726

Summaries for ALDOA Gene

Entrez Gene Summary for ALDOA Gene

  • This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]

GeneCards Summary for ALDOA Gene

ALDOA (Aldolase, Fructose-Bisphosphate A) is a Protein Coding gene. Diseases associated with ALDOA include Glycogen Storage Disease Xii and Melanoma-Associated Retinopathy. Among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ALDOC.

UniProtKB/Swiss-Prot for ALDOA Gene

  • Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Gene Wiki entry for ALDOA Gene

Additional gene information for ALDOA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDOA Gene

Genomics for ALDOA Gene

GeneHancer (GH) Regulatory Elements for ALDOA Gene

Promoters and enhancers for ALDOA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I030052 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.1 1115 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ALDOA FAM57B SETD1A SRCAP NPIPB12 INO80E SMG1P5 SMG1P2 ZNF764 ZNF747
GH16I030063 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 +12.5 12529 4.9 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 ENSG00000274904 PIR61223 ALDOA YPEL3 SMG1P2 STX4 RNF40 SMG1P5 INO80E PRR14
GH16I030051 Enhancer 0.9 Ensembl ENCODE 550.8 -1.4 -1428 1.1 ZNF639 ZNF189 JUN OSR2 ZNF335 ZSCAN21 ZSCAN23 ZNF121 ZFHX2 ZNF366 ALDOA FAM57B GC16P030051 TBX6 C16orf92 PPP4C DOC2A HIRIP3 INO80E NPIPB12
GH16I030367 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +322.9 322942 17 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MYLPF ZNF48 TBC1D10B SEPT1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 ZNF764
GH16I029783 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -268.6 -268605 2.6 PKNOX1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 ZNF766 CBX5 C16orf92 NPIPB13 NPIPB12 SRCAP ENSG00000260853 ZNF747 INO80E SPNS1 SMG1P5 ATXN2L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALDOA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDOA gene promoter:

Genomic Locations for ALDOA Gene

Genomic Locations for ALDOA Gene
17,368 bases
Plus strand

Genomic View for ALDOA Gene

Genes around ALDOA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDOA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDOA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDOA Gene

Proteins for ALDOA Gene

  • Protein details for ALDOA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Fructose-bisphosphate aldolase A
    Protein Accession:
    Secondary Accessions:
    • B4DXI7
    • Q6FH76
    • Q6FI10
    • Q96B15
    • Q9BWD9
    • Q9UCN2

    Protein attributes for ALDOA Gene

    364 amino acids
    Molecular mass:
    39420 Da
    Quaternary structure:
    • Homotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).
    • In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain.

    Three dimensional structures from OCA and Proteopedia for ALDOA Gene

    Alternative splice isoforms for ALDOA Gene


neXtProt entry for ALDOA Gene

Selected DME Specific Peptides for ALDOA Gene


Post-translational modifications for ALDOA Gene

  • Ubiquitination at Lys14, posLast=2828, posLast=8787, posLast=108108, posLast=294294, Lys312, Lys318, Lys322, posLast=330330, and posLast=342342
  • Modification sites at PhosphoSitePlus

Domains & Families for ALDOA Gene

Gene Families for ALDOA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ALDOA Gene

Suggested Antigen Peptide Sequences for ALDOA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class I fructose-bisphosphate aldolase family.
  • Belongs to the class I fructose-bisphosphate aldolase family.
genes like me logo Genes that share domains with ALDOA: view

Function for ALDOA Gene

Molecular function for ALDOA Gene

GENATLAS Biochemistry:
aldolase A,fructose-bisphosphate,expressed in muscle (M type),and in most other tissues,(N and H types),overexpressed in most lung cancers,homotetramer,fructose metabolism,energy pathway,more affinity for F-1-P than for F-1,6-P
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius) {ECO:0000269 PubMed:14766013}; Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius. {ECO:0000269 PubMed:14766013};
UniProtKB/Swiss-Prot CatalyticActivity:
D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
UniProtKB/Swiss-Prot Function:
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Enzyme Numbers (IUBMB) for ALDOA Gene

Gene Ontology (GO) - Molecular Function for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22681889
GO:0003779 actin binding TAS 1008835
GO:0003824 catalytic activity IEA --
GO:0004332 fructose-bisphosphate aldolase activity IDA,IEA 9244396
GO:0005515 protein binding IPI 20849852
genes like me logo Genes that share ontologies with ALDOA: view
genes like me logo Genes that share phenotypes with ALDOA: view

Human Phenotype Ontology for ALDOA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ALDOA Gene

miRTarBase miRNAs that target ALDOA

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDOA Gene

Localization for ALDOA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDOA Gene

Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDOA gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,HDA 23580065
GO:0005634 nucleus HDA,IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with ALDOA: view

Pathways & Interactions for ALDOA Gene

genes like me logo Genes that share pathways with ALDOA: view

Pathways by source for ALDOA Gene

UniProtKB/Swiss-Prot P04075-ALDOA_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.

Gene Ontology (GO) - Biological Process for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006000 fructose metabolic process IMP 14615364
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IMP,IEA 14615364
GO:0006754 ATP biosynthetic process IMP 14615364
genes like me logo Genes that share ontologies with ALDOA: view

No data available for SIGNOR curated interactions for ALDOA Gene

Drugs & Compounds for ALDOA Gene

(15) Drugs for ALDOA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2430
1,6-DI-O-PHOSPHONO-D-MANNITOL Experimental Pharma Target 0
1,6-Fructose Diphosphate (Linear Form) Experimental Pharma Target 0
Glyceraldehyde-3-Phosphate Experimental Pharma 0

(15) Additional Compounds for ALDOA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
fructose 1-phosphate
  • D-Fructose 1-phosphate
  • D-Fructose-1-P
  • D-Fructose-1-phosphate
  • Fructose 1-phosphate
  • Fructose-1-P
  • (+/-)-2,3-dihydroxy-Propanal
  • (+/-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • alpha,beta-Dihydroxypropionaldehyde
beta-D-Fructose 1,6-bisphosphate
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
  • D-Erythrose 4-PO4
  • D-Erythrose-4-P
  • D-Erythrose-4-phosphate
  • Erythrose 4-phosphate
Fructose 1,6-bisphosphate
  • D-Fructose 1,6-biphosphate
  • D-Fructose 1,6-bis(dihydrogen phosphate)
  • D-Fructose 1,6-bisphosphate
  • D-Fructose 1,6-diphosphate
  • D-Fructose-1,6-bisphosphate
genes like me logo Genes that share compounds with ALDOA: view

Transcripts for ALDOA Gene

Unigene Clusters for ALDOA Gene

Aldolase A, fructose-bisphosphate:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDOA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP6: - - - - - - -
SP9: - - - - - - -
SP10: - - - - -
SP16: - - -
SP17: - - - -
SP18: - - - - - -
SP19: - - - - -
SP20: -
SP21: - - - - - -
SP23: -

ExUns: 9e ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - -
SP8: - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - -
SP12: - - -
SP13: - -
SP15: -
SP18: - -
SP21: - -

Relevant External Links for ALDOA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDOA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDOA Gene

mRNA differential expression in normal tissues according to GTEx for ALDOA Gene

This gene is overexpressed in Muscle - Skeletal (x10.0).

Protein differential expression in normal tissues from HIPED for ALDOA Gene

This gene is overexpressed in Tonsil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDOA Gene

Protein tissue co-expression partners for ALDOA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDOA Gene:


SOURCE GeneReport for Unigene cluster for ALDOA Gene:


Evidence on tissue expression from TISSUES for ALDOA Gene

  • Eye(5)
  • Lung(5)
  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.9)
  • Blood(4.8)
  • Skin(4.8)
  • Intestine(4.7)
  • Pancreas(4.5)
  • Heart(4.4)
  • Kidney(4.4)
  • Stomach(3.8)
  • Thyroid gland(3.4)
  • Bone(2.8)
  • Adrenal gland(2.5)
  • Bone marrow(2.5)
  • Gall bladder(2.5)
  • Lymph node(2.4)
  • Spleen(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDOA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • neck
  • scalp
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • white blood cell
genes like me logo Genes that share expression patterns with ALDOA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALDOA Gene

Orthologs for ALDOA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDOA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDOA 33 34
  • 99.36 (n)
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
  • 91.75 (n)
-- 34
  • 56 (a)
(Mus musculus)
Mammalia Aldoart2 34
  • 93 (a)
Aldoa 16 34 33
  • 90.11 (n)
Aldoart1 34
  • 89 (a)
(Bos Taurus)
Mammalia ALDOA 33 34
  • 92.12 (n)
(Rattus norvegicus)
Mammalia Aldoa 33
  • 89.29 (n)
(Ornithorhynchus anatinus)
Mammalia ALDOA 34
  • 79 (a)
(Monodelphis domestica)
Mammalia ALDOA 34
  • 64 (a)
(Anolis carolinensis)
Reptilia ALDOA 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldoa 33
  • 80.68 (n)
Str.6670 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53030 33
(Danio rerio)
Actinopterygii aldoab 34
  • 84 (a)
aldoaa 34 33
  • 75.64 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2063 33
fruit fly
(Drosophila melanogaster)
Insecta Ald 34 35
  • 69 (a)
CG5432 35 34
  • 57 (a)
(Caenorhabditis elegans)
Secernentea T05D4.1 35
  • 67 (a)
aldo-1 34
  • 66 (a)
F01F1.12a 35
  • 65 (a)
F01F1.12b 35
  • 64 (a)
aldo-2 33 34
  • 63.11 (n)
(Oryza sativa)
Liliopsida Os08g0120600 33
  • 62.67 (n)
Os.46386 33
(Zea mays)
Liliopsida Zm.7177 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11039 34
  • 68 (a)
Species where no ortholog for ALDOA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDOA Gene

Gene Tree for ALDOA (if available)
Gene Tree for ALDOA (if available)

Paralogs for ALDOA Gene

Paralogs for ALDOA Gene Pseudogenes for ALDOA Gene

genes like me logo Genes that share paralogs with ALDOA: view

Variants for ALDOA Gene

Sequence variations from dbSNP and Humsavar for ALDOA Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1048708464 uncertain-significance, HNSHA due to aldolase A deficiency 30,069,622(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121909533 pathogenic, HNSHA due to aldolase A deficiency, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,068,824(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121909534 pathogenic, HNSHA due to aldolase A deficiency, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,069,384(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs138824667 uncertain-significance, HNSHA due to aldolase A deficiency, not specified, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,070,156(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs142315181 uncertain-significance, HNSHA due to aldolase A deficiency 30,069,975(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDOA Gene

Variant ID Type Subtype PubMed ID
esv2758642 CNV gain 17122850
esv3638380 CNV loss 21293372
nsv1160384 CNV duplication 26073780
nsv833187 CNV loss 17160897

Variation tolerance for ALDOA Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDOA Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDOA Gene

Disorders for ALDOA Gene

MalaCards: The human disease database

(9) MalaCards diseases for ALDOA Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xii
  • gsd12
melanoma-associated retinopathy
hemolytic anemia
  • anemia hemolytic
pancreatic cystadenoma
  • cystadenoma of pancreas
prostate carcinoma in situ
  • carcinoma in situ of prostate
- elite association - COSMIC cancer census association via MalaCards
Search ALDOA in MalaCards View complete list of genes associated with diseases


  • Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. {ECO:0000269 PubMed:14615364, ECO:0000269 PubMed:14766013, ECO:0000269 PubMed:2229018, ECO:0000269 PubMed:2825199, ECO:0000269 PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ALDOA Gene

hemolytic anemia

Additional Disease Information for ALDOA

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDOA: view

Publications for ALDOA Gene

  1. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). (PMID: 14615364) Yao DC … Neufeld EJ (Blood 2004) 3 4 22 44 58
  2. Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase. (PMID: 18214967) Gizak A … Rakus D (Proteins 2008) 3 4 22 58
  3. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. (PMID: 14766013) Esposito G … Salvatore F (The Biochemical jour