Seyda A, McEachern GE, Haas R, Robinson BH (2000) Sequential deletion of C-terminal amino acids of the E 1 α component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E 1 α 2 β 2 tetramers: implications for pati...
This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and...
(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 ...
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1)[J].Neuropediatrics, 2014,45(1):56-60. DOI: 10.1055/s-0033-1341601 . 返回引文位置Google Scholar 百度学术 万方数据 [4] Quintana E , ...
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.[provided by RefSeq, Mar 20...
产品说明书 Cat:K001357M-SAlexa Fluor 532 Solarbio 宿主:Mouse 交叉反应:Mouse ; Human 稀释比例:WB 1:500-1000. IF 1:50-200. 别名:PDHA;PDHAD;PDHCE1A;PHE1A 储存条件:Store at -20℃. Avoid freeze / thaw cycles. 规格 价格 北京总部 ...
PDHA1(Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial) is also named as PHE1A.It is one of the 3 enzymes of the pyruvate dehydrogenase complex which is a nuclear-encoded mitochondrial matrix multienzyme complex that provides the primary link between glycolysis and the ...
It is one of the 3 enzymes of the pyruvate dehydrogenase complex which 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. Defects ...
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 ...
(E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological ...