Sequence in raw or FASTA format:
Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.
| RefSeq Version | NM_000035.3, 218505812 |
| Length | 2426 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. |
| Product | fructose-bisphosphate aldolase B |
| Comment | Summary: 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. [provided by RefSeq]. |
| RefSeq | NP_000026.2 |
| CDS | 83..1177 | Exon (1) | 1..72 | Exon (2) | 1..72 | Exon (3) | 73..194 | Exon (4) | 195..406 | Exon (5) | 407..461 | Exon (6) | 462..622 | Exon (7) | 623..706 | Exon (8) | 707..881 | Exon (9) | 882..1081 | Exon (10) | 1082..2426 |
| Translation | MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFR
EILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTN
KETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQ
NGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHAC
TKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSF
SYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTA
CYTY
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| Position | Chain | Variation | Link |
| complement(65) | - | g, a | dbSNP:484567 |
| 92 | + | c, t | dbSNP:118204428 |
| complement(201) | - | c, a | dbSNP:77849749 |
| complement(218) | - | t, a | dbSNP:41281039 |
| 244 | + | c, g | dbSNP:2854709 |
| 260 | + | c, t | dbSNP:118204429 |
| complement(346) | - | g, a | dbSNP:117227125 |
| complement(482) | - | t, g | dbSNP:10123355 |
| 524 | + | c, t | dbSNP:118204430 |
| 530 | + | c, g | dbSNP:1800546 |
| complement(569) | - | g, c | dbSNP:17852652 |
| 606 | + | g, t | dbSNP:76917243 |
| complement(625) | - | c, a | dbSNP:35885472 |
| complement(701) | - | g, c | dbSNP:3739721 |
| 728 | + | a, g | dbSNP:1803086 |
| complement(763) | - | g, a | dbSNP:61757689 |
| 802 | + | a, c | dbSNP:118204426 |
| complement(816) | - | t, g | dbSNP:118138861 |
| complement(830) | - | c, a | dbSNP:41281035 |
| complement(885) | - | t, a | dbSNP:10989495 |
| complement(925) | - | g, a | dbSNP:17852653 |
| 947..949 | + | , ctt | dbSNP:118204425 |
| 1087 | + | c, g | dbSNP:78340951 |
| 1095 | + | c, t | dbSNP:77718928 |
| 1151 | + | c, g | dbSNP:1803088 |
| complement(1231) | - | t, c | dbSNP:28580764 |
| 1246 | + | c, t | dbSNP:4577 |
| complement(1299) | - | t, c | dbSNP:41310087 |
| complement(1329) | - | t, c | dbSNP:114986996 |
| complement(1336) | - | g, a | dbSNP:111401889 |
| complement(1383) | - | t, g | dbSNP:17772869 |
| complement(1682) | - | t, g | dbSNP:17772845 |
| complement(1729) | - | t, a | dbSNP:41308902 |
| complement(1739) | - | t, g | dbSNP:117122890 |
| complement(1789) | - | t, c | dbSNP:41296049 |
| complement(1888) | - | t, g | dbSNP:12347519 |
| complement(2040) | - | g, c | dbSNP:28508262 |
| complement(2074) | - | t, c | dbSNP:17772839 |
| complement(2180) | - | t, c | dbSNP:80292759 |
| complement(2222) | - | t, g | dbSNP:12344277 |
| complement(2296) | - | g, a | dbSNP:41296051 |
| 2328 | + | a, c, g | dbSNP:491979 |
| Gene Symbol | ALDOB |
| Gene Synonym | ALDB; ALDO2 |
| Chromosome | 9 |
| Locus Map | 9q21.3-q22.2 |
| All Transcripts | NM_000035 |
| Title | Stabilization of the predominant disease-causing aldolase variant (A149P) with zwitterionic osmolytes . |
| Author | Stopa,J.D., Chandani,S. and Tolan,D.R. |
| Journal | Biochemistry 50 (5), 663-671 (2011) |
| Title | Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance . |
| Author | Coffee,E.M. and Tolan,D.R. |
| Journal | J. Inherit. Metab. Dis. 33 (6), 715-725 (2010) |
| Title | Hereditary fructose intolerance: functional study of two novel . |
| Author | Esposito,G., Imperato,M.R., Ieno,L., Sorvillo,R., Benigno,V., Parenti,G., Parini,R., Vitagliano,L., Zagari,A. and Salvatore,F. |
| Journal | Hum. Mutat. 31 (12), 1294-1303 (2010) |
| Title | The biochemical basis of hereditary fructose intolerance . |
| Author | Bouteldja,N. and Timson,D.J. |
| Journal | J. Inherit. Metab. Dis. 33 (2), 105-112 (2010) |
| Title | Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population . |
| Author | Coffee,E.M., Yerkes,L., Ewen,E.P., Zee,T. and Tolan,D.R. |
| Journal | J. Inherit. Metab. Dis. 33 (1), 33-42 (2010) |
| Title | A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia . |
| Author | Cross,N.C., Stojanov,L.M. and Cox,T.M. |
| Journal | Nucleic Acids Res. 18 (7), 1925 (1990) |
| Title | Molecular analysis of aldolase B genes in hereditary fructose intolerance . |
| Author | Cross,N.C., de Franchis,R., Sebastio,G., Dazzo,C., Tolan,D.R., Gregori,C., Odievre,M., Vidailhet,M., Romano,V., Mascali,G. et al. |
| Journal | Lancet 335 (8685), 306-309 (1990) |
| Title | Construction and expression of human aldolase A and B expression plasmids in Escherichia coli host . |
| Author | Sakakibara,M., Takahashi,I., Takasaki,Y., Mukai,T. and Hori,K. |
| Journal | Biochim. Biophys. Acta 1007 (3), 334-342 (1989) |
| Title | Human aldolase B gene: characterization of the genomic aldolase B gene and analysis of sequences required for multiple polyadenylations . |
| Author | Mukai,T., Yatsuki,H., Arai,Y., Joh,K., Matsuhashi,S. and Hori,K. |
| Journal | J. Biochem. 102 (5), 1043-1051 (1987) |
| Title | Human aldolase isozyme gene: the structure of multispecies aldolase . |
| Author | Sakakibara,M., Mukai,T., Yatsuki,H. and Hori,K. |
| Journal | Nucleic Acids Res. 13 (14), 5055-5069 (1985) |
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