PDHA1

Pyruvate dehydrogenase (lipoamide) alpha 1, also known as PDHA1, is a human gene.

PBB_Summary
section_title =
summary_text = The pyruvate dehydrogenase complex is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the irreversible conversion of pyruvate into acetyl-CoA. The PDH complex is composed of multiple copies of 3 enzymes: E1 (PDHA1); dihydrolipoyl transacetylase (DLAT; MIM 608770) (E2; EC 2.3.1.12); and dihydrolipoyl dehydrogenase (DLD; MIM 238331) (E3; EC 1.8.1.4). The E1 enzyme is a heterotetramer of 2 alpha and 2 beta subunits. The E1-alpha subunit contains the E1 active site and plays a key role in the function of the PDH complex (Brown et al., 1994). [supplied by OMIM] cite web | title = Entrez Gene: PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5160| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Dahl HH, Brown GK, Brown RM, "et al." |title=Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. |journal=Hum. Mutat. |volume=1 |issue= 2 |pages= 97–102 |year= 1993 |pmid= 1301207 |doi= 10.1002/humu.1380010203
*cite journal | author=Brown GK, Otero LJ, LeGris M, Brown RM |title=Pyruvate dehydrogenase deficiency. |journal=J. Med. Genet. |volume=31 |issue= 11 |pages= 875–9 |year= 1995 |pmid= 7853374 |doi=
*cite journal | author=Sugden MC, Holness MJ |title=Recent advances in mechanisms regulating glucose oxidation at the level of the pyruvate dehydrogenase complex by PDKs. |journal=Am. J. Physiol. Endocrinol. Metab. |volume=284 |issue= 5 |pages= E855–62 |year= 2003 |pmid= 12676647 |doi= 10.1152/ajpendo.00526.2002
*cite journal | author=Dahl HH, Hansen LL, Brown RM, "et al." |title=X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. |journal=J. Inherit. Metab. Dis. |volume=15 |issue= 6 |pages= 835–47 |year= 1993 |pmid= 1293379 |doi=
*cite journal | author=Ito M, Huq AH, Naito E, "et al." |title=Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. |journal=J. Inherit. Metab. Dis. |volume=15 |issue= 6 |pages= 848–56 |year= 1993 |pmid= 1338114 |doi=
*cite journal | author=De Meirleir L, Lissens W, Vamos E, Liebaers I |title=Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit. |journal=Hum. Genet. |volume=88 |issue= 6 |pages= 649–52 |year= 1992 |pmid= 1551669 |doi=
*cite journal | author=Hansen LL, Brown GK, Kirby DM, Dahl HH |title=Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. |journal=J. Inherit. Metab. Dis. |volume=14 |issue= 2 |pages= 140–51 |year= 1991 |pmid= 1909401 |doi=
*cite journal | author=Koike K, Urata Y, Matsuo S, Koike M |title=Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit. |journal=Gene |volume=93 |issue= 2 |pages= 307–11 |year= 1990 |pmid= 2227443 |doi=
*cite journal | author=Endo H, Hasegawa K, Narisawa K, "et al." |title=Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. |journal=Am. J. Hum. Genet. |volume=44 |issue= 3 |pages= 358–64 |year= 1989 |pmid= 2537010 |doi=
*cite journal | author=Brown RM, Dahl HH, Brown GK |title=X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. |journal=Genomics |volume=4 |issue= 2 |pages= 174–81 |year= 1989 |pmid= 2737678 |doi=
*cite journal | author=Maragos C, Hutchison WM, Hayasaka K, "et al." |title=Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. |journal=J. Biol. Chem. |volume=264 |issue= 21 |pages= 12294–8 |year= 1989 |pmid= 2745444 |doi=
*cite journal | author=Ho L, Wexler ID, Liu TC, "et al." |title=Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=86 |issue= 14 |pages= 5330–4 |year= 1989 |pmid= 2748588 |doi=
*cite journal | author=De Meirleir L, MacKay N, Lam Hon Wah AM, Robinson BH |title=Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex. |journal=J. Biol. Chem. |volume=263 |issue= 4 |pages= 1991–5 |year= 1988 |pmid= 2828359 |doi=
*cite journal | author=Dahl HH, Hunt SM, Hutchison WM, Brown GK |title=The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA. |journal=J. Biol. Chem. |volume=262 |issue= 15 |pages= 7398–403 |year= 1987 |pmid= 3034892 |doi=
*cite journal | author=Koike K, Ohta S, Urata Y, "et al." |title=Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 1 |pages= 41–5 |year= 1988 |pmid= 3422424 |doi=
*cite journal | author=Hansen LL, Horn N, Dahl HH, Kruse TA |title=Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. |journal=Hum. Mol. Genet. |volume=3 |issue= 6 |pages= 1021–2 |year= 1994 |pmid= 7545958 |doi=
*cite journal | author=Takakubo F, Cartwright P, Hoogenraad N, "et al." |title=An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. |journal=Am. J. Hum. Genet. |volume=57 |issue= 4 |pages= 772–80 |year= 1995 |pmid= 7573035 |doi=
*cite journal | author=Hemalatha SG, Kerr DS, Wexler ID, "et al." |title=Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. |journal=Hum. Mol. Genet. |volume=4 |issue= 2 |pages= 315–8 |year= 1995 |pmid= 7757088 |doi=

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