Sequence in raw or FASTA format:
Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
| RefSeq Version | NM_000284.3, 291084749 |
| Length | 3390 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. |
| Product | pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial isoform 1 precursor |
| Comment | Summary: The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. |
| RefSeq | NP_000275.1 |
| CDS | 146..1318 | Exon (1) | 1..202 | Exon (2) | 1..202 | Exon (3) | 203..262 | Exon (4) | 263..436 | Exon (5) | 437..563 | Exon (6) | 564..655 | Exon (7) | 656..748 | Exon (8) | 749..904 | Exon (9) | 905..976 | Exon (10) | 977..1044 | Exon (11) | 1045..1153 | Exon (12) | 1154..3372 |
| Translation | MRKMLAAVSRVLSGASQKPASRVLVASRNFANDATFEIKKCDLHRLEEGPPVTTVLTRED
GLKYYRMMQTVRRMELKADQLYKQKIIRGFCHLCDGQEACCVGLEAGINPTDHLITAYRA
HGFTFTRGLSVREILAELTGRKGGCAKGKGGSMHMYAKNFYGGNGIVGAQVPLGAGIALA
CKYNGKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMGTSVERAAAST
DYYKRGDFIPGLRVDGMDILCVREATRFAAAYCRSGKGPILMELQTYRYHGHSMSDPGVS
YRTREEIQEVRSKSDPIMLLKDRMVNSNLASVEELKEIDVEVRKEIEDAAQFATADPEPP
LEELGYHIYSSDPPFEVRGANQWIKFKSVS
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| Gene Symbol | PDHA1 |
| Gene Synonym | PDHA; PDHCE1A; PHE1A |
| Chromosome | X |
| Locus Map | Xp22.1 |
| All Transcripts | NM_000284 , NM_001173454 , NM_001173455 , NM_001173456 |
| Title | Novel mutation (R263X) of the E1alpha subunit in pyruvate dehydrogenase complex deficiency . |
| Author | Sato,S., Ioi,H., Kashiwagi,Y., Kawashima,H., Miyajima,T., Naito,E. and Hoshika,A. |
| Journal | Pediatr Int 52 (4), E181-E183 (2010) |
| Title | Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency . |
| Author | Quintana,E., Gort,L., Busquets,C., Navarro-Sastre,A., Lissens,W., Moliner,S., Lluch,M., Vilaseca,M.A., De Meirleir,L., Ribes,A. and Briones,P. |
| Journal | Clin. Genet. 77 (5), 474-482 (2010) |
| Title | AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells . |
| Author | Glushakova,L.G., Lisankie,M.J., Eruslanov,E.B., Ojano-Dirain,C., Zolotukhin,I., Liu,C., Srivastava,A. and Stacpoole,P.W. |
| Journal | Mol. Genet. Metab. 98 (3), 289-299 (2009) |
| Title | Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation . |
| Author | Joao Silva,M., Pinheiro,A., Eusebio,F., Gaspar,A., Tavares de Almeida,I. and Rivera,I. |
| Journal | Eur. J. Pediatr. 168 (1), 17-22 (2009) |
| Title | Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer . |
| Author | Boichard,A., Venet,L., Naas,T., Boutron,A., Chevret,L., de Baulny,H.O., De Lonlay,P., Legrand,A., Nordman,P. and Brivet,M. |
| Journal | Mol. Genet. Metab. 93 (3), 323-330 (2008) |
| Title | Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit . |
| Author | De Meirleir,L., Lissens,W., Vamos,E. and Liebaers,I. |
| Journal | Hum. Genet. 88 (6), 649-652 (1992) |
| Title | Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein . |
| Author | Ito,M., Huq,A.H., Naito,E., Saijo,T., Takeda,E. and Kuroda,Y. |
| Journal | J. Inherit. Metab. Dis. 15 (6), 848-856 (1992) |
| Title | Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene . |
| Author | Dahl,H.H., Brown,G.K., Brown,R.M., Hansen,L.L., Kerr,D.S., Wexler,I.D., Patel,M.S., De Meirleir,L., Lissens,W., Chun,K. et al. |
| Journal | Hum. Mutat. 1 (2), 97-102 (1992) |
| Title | X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation . |
| Author | Dahl,H.H., Hansen,L.L., Brown,R.M., Danks,D.M., Rogers,J.G. and Brown,G.K. |
| Journal | J. Inherit. Metab. Dis. 15 (6), 835-847 (1992) |
| Title | Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency . |
| Author | Hansen,L.L., Brown,G.K., Kirby,D.M. and Dahl,H.H. |
| Journal | J. Inherit. Metab. Dis. 14 (2), 140-151 (1991) |
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