Gene: [09q2/ALDOB] aldolase B, fructose-bisphosphate; fructose intolerance (hereditary fructosemia);

GEN

The gene length: 15 kb.

FUN

Systematic name: D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase. Catalyzes reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde."

EAG

[1] Phylogenetically related genes for three aldolase isozymes (A, B, and C) are identified (GEM:16q222/ALDOA, GEM:09q2/ALDOB and GEM:17q1/ALDOC). There are also two ALDOA pseudogenes, GEM:03^/ALDOAP1 and GEM:10q/ALDOAP2.
[2] In terms of functional and evolutionary anatomy of genome, it is notable that A and C ALDOA genes, which are more homologous to each other, are located in chromosomes 16 and 17, which are phylogenetically homeologous and morphologically similar. On the other hand, a less related to them B gene and one of ALDO pseudogenes are located in another homeologous pair (9q and 10q) and, in addition, exhibit a pronounced homology of flanking regions. (The above pseudogene is registered as A-pseudogene 2, because its homology with ALDOA is 80% and that with ALDOB, 69%). This allowed to suggest (Tolan-1987) that ALDOB and ALDOAP2 were more homologous to each other earlier in evolution, but afterwards the pseudogene 2 was changed, through a series of recombination, into the modern state, which is more similar to ALDOA."

REF

FOG,PHE "Baerlocher &: Helv Paediat Acta, 33, 465-487, 1978
CLO,SEQ "Besmond C &: BBRC, 117, N2, 601-609, 1983
HIS "Cornblath &: New Engl J Med, 269, 1271-1278, 1963
PAT,MGC "Cox &: New Engl J Med, 307, 537-540, 1982
HIS "Froesch &: Am J Med, 34, 151-167, 1963
PAT,MGC "Gitzelmann &: BBRC, 59, 1270-1277, 1974
LOC,CYG,MOL "Henry &: Ann Hum Genet, 49, 173-180, 1985
FOG,PHE "Lameire &: Am J Med, 65, 416-423, 1978
LOC,CYG,MOL "Lebo RV &: Cytometry, 6, 478-483, 1985
HIS "Levin &: Arch Dis Child, 38, 220-230, 1963
PAT,MGC "Mock &: New Engl J Med, 309, 764-770, 1983
GEN,SEQ,EXP "Mukai T &: J Biochem, 102, 1043-1051, 1987
HIS "Nikkila &: Metabolism, 11, 727-731, 1962
PAT,MGC "Nordmann &: BBRC, 31, 884-889, 1968
PAT,MGC "Oberhaensli &: Lancet, 2, 931-934, 1987
FOG,PHE "Odievre &: Am J Dis Child, 132, 605-608, 1978
POL,MOL "Paolella G &: Hum Genet, 77, 115-117, 1987
POL,MOL "Paolella G &: NAR, 14, 5568, 1986
HIS "Perheentupa, Pitkanen: Lancet, 1, 1358-1359, 1962
PAT,MGC "Raivio &: Clin Chim Acta, 17, 275-279, 1967
FOG,PHE "Rampa, Froesch: Helv Paediat Acta, 36, 317-324, 1981
PAT,MGC "Richardson &: Metabolism, 28, 1133-1138, 1979
CLO,SEQ "Rottmann WH &: PNAS, 81, (May), 2738-2742, 1984
CLO,SEQ "Sakakibara M &: NAR, 13, N14, 5055-5069, 1985
LOC,CYG,MOL,FAG "Santamaria &: CCG, 46, (HGM9), 687, 1987
FOG,PHE "Steinmann, Gitzelmann: Helv Paediat Acta, 36, 297-316, 1981
MUT,MOL,MEB "Takahashi &: J Biochem, 105, 281-286, 1989
FAG "Tolan DR &: AJHG, 41, 907-924, 1987
HIS "Wolf &: Klin Wschr, 37, 693-696, 1959

SWI

SWISSPROT: P05062

KEY

glyc, carb, mtbd

CLA

coding, basic

LOC

09 q21.3-22.2

MIM

MIM: 229600

EZN

ENZYME: 4.1.2.13

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