ALDOA 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]

ALDOA Details

Gene Symbol : ALDOA

Gene Name : Aldolase, fructose-bisphosphate A

Chromosome : CHR 16: 300,530,89-300,704,19

Locus : 16p11.2

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SLC1A3 Summary

This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]

SLC1A3 Details

Gene Symbol : SLC1A3

Gene Name : Solute carrier family 1 member 3

Chromosome : CHR 5: 366,063,54-366,883,33

Locus : 5p13.2

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