ALDOA gene

aldolase, fructose-bisphosphate A

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein.

From NCBI Gene:

  • HNSHA due to aldolase A deficiency

From UniProt:

Glycogen storage disease 12 (GSD12): A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. [MIM:611881]

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 30,053,090 to 30,070,420 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2
  • ALDA
  • GSD12
  • HEL-S-87p