ALDOA aldolase, fructose-bisphosphate A
Gene ID: 226, updated on 5-May-2024Gene type: protein coding
Also known as: ALDA; GSD12; HEL-S-87p
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- Go to complete Gene record for ALDOA
- Go to Variation Viewer for ALDOA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
HNSHA due to aldolase A deficiency | See labs |
Genomic context
- Location:
- 16p11.2
- Sequence:
- Chromosome: 16; NC_000016.10 (30064279..30070420)
- Total number of exons:
- 11
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ALDOA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALDOA database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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