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Gene : ALDOA Homo sapiens

Name  ? aldolase, fructose-bisphosphate A Cytological Location  16p11.2
Brief Description  aldolase, fructose-bisphosphate A
description  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]
  • synonyms:
  • HGNC:414,
  • HEL-S-87p,
  • GSD12,
  • ALDOA,
  • ALDA,
  • X05236,
  • NM_000034,
  • uc002dvx.4,
  • aldolase A, fructose-bisphosphate,
  • OTTHUMG00000132107
  • identifiers:
  • 226,
  • ENSG00000285043,
  • ALDOA

Genome feature

Region: gene ? Length: 17331  
Location: 16:30053090-30070420 Cyto location: 16p11.2


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

10 SN Ps

6 Cross References

19 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results