Lactate dehydrogenase b
Lactate dehydrogenase B is a protein that in humans is encoded by the LDHB gene. [5]
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| Aliases | LDHB, HEL-S-281, LDH-B, LDH-H, LDHBD, TRG-5, lactate dehydrogenase B | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 150100 MGI: 96763 HomoloGene: 55647 GeneCards: LDHB | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13.
References
- GRCh38: Ensembl release 89: ENSG00000111716 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000030246 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Lactate dehydrogenase B". Retrieved 2017-10-01.
Further reading
- Philibert RA, Nelson JJ, Sandhu HK, Crowe RR, Coryell WH (2003). "Association of an exonic LDHA polymorphism with altered respiratory response in probands at high risk for panic disorder". Am. J. Med. Genet. B Neuropsychiatr. Genet. 117B (1): 11–7. doi:10.1002/ajmg.b.10015. PMID 12555229. S2CID 25994539.
- Mazzotta S, Guerranti R, Gozzetti A, Bucalossi A, Bocchia M, Sammassimo S, Petralia S, Ogueli GI, Lauria F (2006). "Increased serum lactate dehydrogenase isoenzymes in Ph-negative chronic myeloproliferative diseases: a metabolic adaptation?". Hematology. 11 (4): 239–44. doi:10.1080/10245330600774835. PMID 17178662. S2CID 36110689.
- de Haas T, Hasselt N, Troost D, Caron H, Popovic M, Zadravec-Zaletel L, Grajkowska W, Perek M, Osterheld MC, Ellison D, Baas F, Versteeg R, Kool M (2008). "Molecular risk stratification of medulloblastoma patients based on immunohistochemical analysis of MYC, LDHB, and CCNB1 expression". Clin. Cancer Res. 14 (13): 4154–60. doi:10.1158/1078-0432.CCR-07-4159. PMID 18593994.
- Whyte MP, Kempa LG, McAlister WH, Zhang F, Mumm S, Wenkert D (2010). "Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders". J. Bone Miner. Res. 25 (11): 2515–26. doi:10.1002/jbmr.130. PMID 20499337. S2CID 22022750.
- Egberts F, Momkvist A, Egberts JH, Kaehler KC, Hauschild A (2010). "Serum S100B and LDH are not useful in predicting the sentinel node status in melanoma patients". Anticancer Res. 30 (5): 1799–805. PMID 20592382.
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. Bibcode:2010PLoSO...512862H. doi:10.1371/journal.pone.0012862. PMC 2943476. PMID 20877624.
- Swiderek K, Paneth P (2011). "Differences and similarities in binding of pyruvate and L-lactate in the active site of M4 and H4 isoforms of human lactate dehydrogenase". Arch. Biochem. Biophys. 505 (1): 33–41. doi:10.1016/j.abb.2010.10.010. PMID 20951115.
- Zha X, Wang F, Wang Y, He S, Jing Y, Wu X, Zhang H (2011). "Lactate dehydrogenase B is critical for hyperactive mTOR-mediated tumorigenesis". Cancer Res. 71 (1): 13–8. doi:10.1158/0008-5472.CAN-10-1668. PMID 21199794.
- Kim JH, Kim EL, Lee YK, Park CB, Kim BW, Wang HJ, Yoon CH, Lee SJ, Yoon G (2011). "Decreased lactate dehydrogenase B expression enhances claudin 1-mediated hepatoma cell invasiveness via mitochondrial defects". Exp. Cell Res. 317 (8): 1108–18. doi:10.1016/j.yexcr.2011.02.011. PMID 21356207.
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