Aldolase B, Fructose-Bisphosphate

Alternative Names

  • Fructose-1,6-Bisphosphate Aldolase B
  • Aldolase B
  • ALDB
  • Aldolase 2
  • ALDO2
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OMIM Number

612724

NCBI Gene ID

229

Uniprot ID

P05062

Length

29,105 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Fructose-bisphosphate aldolase B

Molecular Mass

39473 Da

Amino Acid Count

364

Genomic Location

chr9:101,420,560-101,449,664

Gene Map Locus
9q31.1

Description

Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000035.4:c.524C>AJordan; Lebanonchr9:101427498PathogenicPathogenicFructose Intolerance, HereditaryNG_012387.1:g.13283C>A; NM_000035.4:c.524C>A; NP_000026.2:p.Ala175Asp76917243465
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