ALDOB

ALDOB

A gene on chromosome 9q21.3-q22.2 that encodes aldolase B (fructose-bisphosphate aldolase), a glycolytic enzyme that catalyses the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. It is expressed in the developing embryo and in adult muscle, adult liver, kidney and intestine.

Molecular pathology
ALDOB mutations cause hereditary fructose intolerance.
References in periodicals archive ?
Molecular Biology schemes: Factor V-Leiden, prothrombin, MTHFR, PAII (SERPINE1), factor XIII (F13A1), GPIIIa (1TGB3), [3Fib (FGB), VKORC1, Factor XII (F12), a1 PI, APOE, APOB, ACE, CETP, TPMT, CYP2C19, CYP2D6, CYP2C8, CYP2C9, UGT1A1 , DPD (DPYD), BCHE, ALDOB, HFE, LCT, NOD2, ATP7B, FSAP (HABP2), ITGA2, KRAS.
Direct sequencing of exons 5 and 9 of the ALDOB gene (aldolase B, fructose-bisphosphate) (2) confirmed HFI due to a homozygous G>C transition in exon 5.
We recommend that the laboratory instead perform genetic testing for HFI, which leads to a definitive diagnosis in most cases, because only 3 missense mutations in the ALDOB gene account for 85%-95% of the HFI alleles in different Caucasian populations (A149P, A174D, and N334K) (9, 10).
7] Human genes: GALNT3, UDP-N-acetyl-[alpha]-D-galactosamine: polypeptide-N-acetylgalactosaminyltransferase 3; COG7, component of oligomeric golgi complex 7; LMNA, lamin A/C (previous symbols: LMN1, CMD1A); MGAT2, mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase; GCS1, glucosidase; SLC35C1, solute carrier family 35, member C1; B4GALT1, UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypepfide 1; SLC35A1, solute carrier family 35 (CMP-sialic acid transporter), member A1; POMGNTI, protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase; GNE, glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; GALT, galactose-1-phosphate uridylyltransferase; ALDOB, aldolase B, fructose-bisphosphate.