Search results
Results from the WOW.Com Content Network
Pyruvate dehydrogenase (PDH) deficiency is a congenital degenerative metabolic disease resulting from a mutation of the pyruvate dehydrogenase complex (PDC) located on the X chromosome. While defects have been identified in all 3 enzymes of the complex, the E1-α subunit is predominantly the culprit.
The PDHB gene is responsible for the coding of the E1 beta subunit of the pyruvate dehydrogenase complex. The DLAT gene is responsible for the coding of the E2 subunit, and the PDP1 is responsible for producing the PDH phosphatase catalytic subunit that catalyzes PDH dephosphorylation. This dephosphorylation activates the complex.
228026 Ensembl ENSG00000152256 ENSMUSG00000006494 UniProt Q15118 Q8BFP9 RefSeq (mRNA) NM_001278549 NM_002610 NM_172665 NM_001360002 RefSeq (protein) NP_001265478 NP_002601 NP_766253 NP_001346931 Location (UCSC) Chr 2: 172.56 – 172.61 Mb Chr 2: 71.7 – 71.73 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Pyruvate dehydrogenase lipoamide kinase isozyme 1, mitochondrial is an enzyme ...
Pymol-generated image of E1 subunit of pyruvate dehydrogenase complex in E. Coli. The E1 subunit, called the pyruvate dehydrogenase subunit, is either a homodimer (comprising two “α” chains, e.g. in Escherichia coli) or a heterotetramer of two different chains (two “α” and two “β” chains).
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial is an enzyme that in humans is encoded by the PDHA1 gene.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.
PDH may refer to: Angiotensin-converting enzyme, an enzyme; Plesiochronous digital hierarchy, in telecommunications networks; Pound–Drever–Hall technique for stabilizing a laser's output; Pyranose dehydrogenase (acceptor), an enzyme; Pyruvate dehydrogenase, an enzyme
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
381511 Ensembl ENSG00000164951 ENSMUSG00000049225 UniProt Q9P0J1 Q3UV70 RefSeq (mRNA) NM_001161778 NM_001161779 NM_001161780 NM_001161781 NM_018444 NM_001033453 NM_001098230 NM_001098231 NM_001290387 NM_001290391 RefSeq (protein) NP_001155251 NP_001155252 NP_001155253 NP_060914 NP_001028625 NP_001091700 NP_001091701 NP_001277316 NP_001277320 Location (UCSC) Chr 8: 93.86 – 93.93 Mb Chr 4: 11 ...