rs145811469

This variant is located in the ALDOA gene.

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ClinVar annotation

Likely Benign★★★☆

3 submitters1 publication

not specified; HNSHA due to aldolase A deficiency; Sarcoma

About ALDOA

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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