Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 2, mRNA.
| RefSeq Version | NM_001135239.1, 207028493 |
| Length | 2052 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 2, mRNA. |
| Product | L-lactate dehydrogenase A chain isoform 2 |
| Comment | Summary: The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq]. Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks a segment of the LDH domain but has the same N- and C-termini, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_001128711.1 |
| CDS | 273..1097 | Exon (1) | 1..248 | Exon (2) | 1..248 | Exon (3) | 249..398 | Exon (4) | 399..516 | Exon (5) | 517..690 | Exon (6) | 691..808 | Exon (7) | 809..932 | Exon (8) | 933..2034 |
| Translation | MATLKDQLIYNLLKEEQTPQNKITVVGVGAVGMACAISILMKDLADELALVDVIEDKLKG
EMMDLQHGSLFLRTPKIVSGKVDILTYVAWKISGFPKNRVIGSGCNLDSARFRYLMGERL
GVHPLSCHGWVLGEHGDSSVPVWSGMNVAGVSLKTLHPDLGTDKDKEQWKEVHKQVVESA
YEVIKLKGYTSWAIGLSVADLAESIMKNLRRVHPVSTMIKGLYGIKDDVFLSVPCILGQN
GISDLVKVTLTSEEEARLKKSADTLWGIQKELQF
Order your protein of interest with our Guaranteed or It's Free Service now! For details, please click here. |
| Position | Chain | Variation | Link |
| 105 | + | g, t | dbSNP:113277870 |
| 182 | + | a, c | dbSNP:112306841 |
| 289 | + | a, g | dbSNP:11553873 |
| 318 | + | a, g | dbSNP:11553866 |
| 326 | + | c, t | dbSNP:11553865 |
| 329 | + | a, c | dbSNP:11553870 |
| 351 | + | a, g | dbSNP:11553874 |
| 469 | + | a, g | dbSNP:11553869 |
| 537 | + | g, t | dbSNP:116841148 |
| 581 | + | c, g, t | dbSNP:5030621 |
| 617 | + | a, g, t | dbSNP:4820 |
| complement(706) | - | g, c | dbSNP:34305721 |
| 1052 | + | a, g | dbSNP:12790695 |
| 1289 | + | a, g | dbSNP:11553862 |
| 1340 | + | c, g | dbSNP:76818137 |
| 1465 | + | a, c | dbSNP:14790 |
| 1519 | + | c, t | dbSNP:14789 |
| 1719 | + | a, g | dbSNP:3758681 |
| 1736 | + | c, t | dbSNP:3758682 |
| 1817 | + | c, g | dbSNP:3758683 |
| 1860..1862 | + | , tat | dbSNP:59010595 |
| 1860 | + | , tat | dbSNP:72514576 |
| Gene Symbol | LDHA |
| Gene Synonym | GSD11; LDH1; LDHM; PIG19 |
| Chromosome | 11 |
| Locus Map | 11p15.4 |
| All Transcripts | NM_001135239 , NM_005566 , NM_001165414 , NM_001165415 , NM_001165416 |
| 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 | Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid . |
| Author | Marzi,C., Albrecht,E., Hysi,P.G., Lagou,V., Waldenberger,M., Tonjes,A., Prokopenko,I., Heim,K., Blackburn,H., Ried,J.S., Kleber,M.E., Mangino,M., Thorand,B., Peters,A., Hammond,C.J., Grallert,H., Boehm,B.O., Kovacs,P., Geistlinger,L., Prokisch,H., Winkelmann,B.R., Spector,T.D., Wichmann,H.E., Stumvoll,M., Soranzo,N., Marz,W., Koenig,W., Illig,T. and Gieger,C. |
| Journal | PLoS Genet. 6 (11), E1001213 (2010) |
| Title | An approach based on a genome-wide association study reveals candidate loci for narcolepsy . |
| Author | Shimada,M., Miyagawa,T., Kawashima,M., Tanaka,S., Honda,Y., Honda,M. and Tokunaga,K. |
| Journal | Hum. Genet. 128 (4), 433-441 (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 | Lactate dehydrogenase 5 expression in squamous cell head and neck cancer relates to prognosis following radical or postoperative radiotherapy . |
| Author | Koukourakis,M.I., Giatromanolaki,A., Winter,S., Leek,R., Sivridis,E. and Harris,A.L. |
| Journal | Oncology 77 (5), 285-292 (2009) |
| Title | [Gene expression in lactate dehydrogenase-A subunit deficiency] . |
| Author | Miyajima,H., Shimizu,T. and Kaneko,E. |
| Journal | Rinsho Shinkeigaku 32 (10), 1087-1092 (1992) |
| Title | Molecular analysis of genetic mutation in electrophoretic variant of human lactate dehydrogenase-A(M) subunit . |
| Author | Sudo,K., Maekawa,M., Shioya,M., Ikeda,K., Takahashi,N., Isogai,Y., Li,S.S., Kanno,T., Machida,K. and Toriumi,J. |
| Journal | Biochem. Int. 27 (6), 1051-1057 (1992) |
| Title | Genotypic analysis of families with lactate dehydrogenase A (M) deficiency by selective DNA amplification . |
| Author | Maekawa,M., Sudo,K., Li,S.S. and Kanno,T. |
| Journal | Hum. Genet. 88 (1), 34-38 (1991) |
| Title | Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining . |
| Author | Maekawa,M., Sudo,K., Li,S.S. and Kanno,T. |
| Journal | Biochem. Biophys. Res. Commun. 180 (2), 1083-1090 (1991) |
| Title | Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11 . |
| Author | Scrable,H.J., Johnson,D.K., Rinchik,E.M. and Cavenee,W.K. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 87 (6), 2182-2186 (1990) |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
 |
Secured Online Quotation |
 |
Email: gene@genscript.com |
 |
Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 |
 |
Fax: 1-732-210-0262 1-732-885-5878 |