Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 1, mRNA.
| RefSeq Version | NM_002300.6, 291575126 |
| Length | 1317 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 1, mRNA. |
| Product | L-lactate dehydrogenase B chain |
| Comment | Summary: This gene encodes an enzyme which catalyzes the reversible conversion of lactate and pyruvate, and NAD and NADH, in the glycolytic pathway. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on the X chromosome and on chromosome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq]. Transcript Variant: This variant (1) represents the shorter transcript. Both variants 1 and 2 encode the same protein. |
| RefSeq | NP_002291.1 |
| CDS | 112..1116 | Exon (1) | 1..105 | Exon (2) | 1..105 | Exon (3) | 106..240 | Exon (4) | 241..358 | Exon (5) | 359..532 | Exon (6) | 533..706 | Exon (7) | 707..824 | Exon (8) | 825..948 | Exon (9) | 949..1317 |
| Translation | MATLKEKLIAPVAEEEATVPNNKITVVGVGQVGMACAISILGKSLADELALVDVLEDKLK
GEMMDLQHGSLFLQTPKIVADKDYSVTANSKIVVVTAGVRQQEGESRLNLVQRNVNVFKF
IIPQIVKYSPDCIIIVVSNPVDILTYVTWKLSGLPKHRVIGSGCNLDSARFRYLMAEKLG
IHPSSCHGWILGEHGDSSVAVWSGVNVAGVSLQELNPEMGTDNDSENWKEVHKMVVESAY
EVIKLKGYTNWAIGLSVADLIESMLKNLSRIHPVSTMVKGMYGIENEVFLSLPCILNARG
LTSVINQKLKDDEVAQLKKSADTLWDIQKDLKDL
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| Position | Chain | Variation | Link |
| complement(29) | - | g, a | dbSNP:74069330 |
| complement(31) | - | g, c | dbSNP:74069329 |
| 130 | + | a, g | dbSNP:118203897 |
| 165 | + | a, c | dbSNP:11547929 |
| complement(276) | - | c, a | dbSNP:75808403 |
| complement(372) | - | g, a | dbSNP:1650294 |
| complement(399) | - | c, a | dbSNP:114367828 |
| 404 | + | g, t | dbSNP:11547925 |
| 411 | + | a, t | dbSNP:11547931 |
| 478 | + | a, c | dbSNP:11547927 |
| 479 | + | c, t | dbSNP:11547922 |
| 487 | + | g, t | dbSNP:11547923 |
| 496 | + | a, c | dbSNP:118203896 |
| complement(546) | - | t, c | dbSNP:112045700 |
| complement(599) | - | , c | dbSNP:35460727 |
| 626 | + | a, g | dbSNP:118203895 |
| complement(634) | - | t, c | dbSNP:7966339 |
| complement(706) | - | t, c | dbSNP:113612324 |
| 760 | + | c, t | dbSNP:11547926 |
| 990 | + | a, g | dbSNP:4828 |
| complement(992) | - | t, c | dbSNP:3575 |
| 1079 | + | c, t | dbSNP:15140 |
| 1127 | + | c, t | dbSNP:3203471 |
| 1207 | + | c, t | dbSNP:15141 |
| Gene Symbol | LDHB |
| Gene Synonym | LDH-H; TRG-5 |
| Chromosome | 12 |
| Locus Map | 12p12.2-p12.1 |
| All Transcripts | NM_002300 , NM_001174097 |
| Title | Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis . |
| Author | Zha,X., Wang,F., Wang,Y., He,S., Jing,Y., Wu,X. and Zhang,H. |
| Journal | Cancer Res. 71 (1), 13-18 (2011) |
| Title | Differences and similarities in binding of pyruvate and L-lactate in the active site of M4 and H4 isoforms of human lactate dehydrogenase . |
| Author | Swiderek,K. and Paneth,P. |
| Journal | Arch. Biochem. Biophys. 505 (1), 33-41 (2011) |
| Title | Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schonberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders . |
| Author | Whyte,M.P., Kempa,L.G., McAlister,W.H., Zhang,F., Mumm,S. and Wenkert,D. |
| Journal | J. Bone Miner. Res. 25 (11), 2515-2526 (2010) |
| Title | Serum S100B and LDH are not useful in predicting the sentinel node status in melanoma patients . |
| Author | Egberts,F., Momkvist,A., Egberts,J.H., Kaehler,K.C. and Hauschild,A. |
| Journal | Anticancer Res. 30 (5), 1799-1805 (2010) |
| Title | Genetic variants in nuclear-encoded mitochondrial genes influence . |
| Author | Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. |
| Journal | PLoS ONE 5 (9), E12862 (2010) |
| Title | Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant . |
| Author | Sudo,K., Maekawa,M., Tomonaga,A., Tsukada,T., Nakayama,T., Kitamura,M., Li,S.S., Kanno,T. and Toriumi,J. |
| Journal | Hum. Genet. 89 (2), 158-162 (1992) |
| Title | Human centrosomal epitope is shared specifically with human lactate dehydrogenase-B isozyme . |
| Author | Gosti,F., Li,S.S., Maunoury,R. and Bornens,M. |
| Journal | FEBS Lett. 299 (3), 231-234 (1992) |
| Title | A missense mutation found in human lactate dehydrogenase-B (H) variant gene . |
| Author | Sudo,K., Maekawa,M., Ikawa,S., Machida,K., Kitamura,M. and Li,S.S. |
| Journal | Biochem. Biophys. Res. Commun. 168 (2), 672-676 (1990) |
| Title | Structure of the human lactate dehydrogenase B gene . |
| Author | Takeno,T. and Li,S.S. |
| Journal | Biochem. J. 257 (3), 921-924 (1989) |
| Title | [Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)] . |
| Author | Rethore,M.O., Kaplan,J.C., Junien,C., Cruveiller,J., Dutrillaux,B., Aurias,A., Carpentier,S., Lafourcade,J. and Lejeune. |
| Journal | Ann. Genet. 18 (2), 81-87 (1975) |
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