5xti: Difference between revisions

==Cryo-EM architecture of human respiratory chain megacomplex-I2III2IV2==

== Structural highlights ==

<table><tr><td colspan='2'>[[5xti]] is a 138 chain structure with sequence from [http://en.wikipedia.org/wiki/Bos_taurus Bos taurus] and [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5XTI OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5XTI FirstGlance]. <br>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=5xti FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5xti OCA], [http://pdbe.org/5xti PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5xti RCSB], [http://www.ebi.ac.uk/pdbsum/5xti PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5xti ProSAT]</span></td></tr>

</table>

== Disease ==

[[http://www.uniprot.org/uniprot/QCR7_HUMAN QCR7_HUMAN]] Isolated CoQ-cytochrome C reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUAD_HUMAN NDUAD_HUMAN]] Papillary or follicular thyroid carcinoma. Disease susceptibility is associated with variations affecting the gene represented in this entry.  Defects in NDUFA13 are a cause of a mitochondrial complex I deficiency characterized by early onset hypotonia, dyskinesia and sensorial deficiencies, as well as a severe optic neuropathy.<ref>PMID:25901006</ref>  [[http://www.uniprot.org/uniprot/NDUS6_HUMAN NDUS6_HUMAN]] Isolated NADH-CoQ reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUAA_HUMAN NDUAA_HUMAN]] Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUAB_HUMAN NDUAB_HUMAN]] Isolated NADH-CoQ reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUS4_HUMAN NDUS4_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/CY1_HUMAN CY1_HUMAN]] Isolated CoQ-cytochrome C reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUB9_HUMAN NDUB9_HUMAN]] Isolated NADH-CoQ reductase deficiency.  [[http://www.uniprot.org/uniprot/QCR8_HUMAN QCR8_HUMAN]] Isolated CoQ-cytochrome C reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUS1_HUMAN NDUS1_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUS3_HUMAN NDUS3_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy.  [[http://www.uniprot.org/uniprot/CYB_HUMAN CYB_HUMAN]] Histiocytoid cardiomyopathy;Leber hereditary optic neuropathy;Isolated CoQ-cytochrome C reductase deficiency. Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder).<ref>PMID:11047755</ref> <ref>PMID:11601507</ref>  The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. [[http://www.uniprot.org/uniprot/QCR2_HUMAN QCR2_HUMAN]] Isolated CoQ-cytochrome C reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUS8_HUMAN NDUS8_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUA1_HUMAN NDUA1_HUMAN]] Isolated NADH-CoQ reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUV1_HUMAN NDUV1_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUBB_HUMAN NDUBB_HUMAN]] The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry.  The disease may be caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUV2_HUMAN NDUV2_HUMAN]] Isolated NADH-CoQ reductase deficiency.  [[http://www.uniprot.org/uniprot/NDUB3_HUMAN NDUB3_HUMAN]] Isolated NADH-CoQ reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUAC_HUMAN NDUAC_HUMAN]] The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUS7_HUMAN NDUS7_HUMAN]] Isolated NADH-CoQ reductase deficiency;Leigh syndrome with leukodystrophy. The disease is caused by mutations affecting the gene represented in this entry.  The disease is caused by mutations affecting the gene represented in this entry. [[http://www.uniprot.org/uniprot/NDUA9_HUMAN NDUA9_HUMAN]] Isolated NADH-CoQ reductase deficiency. The disease is caused by mutations affecting the gene represented in this entry.  

[[Category: Bos taurus]]

[[Category: Homo sapiens]]

[[Category: Gu, J]]

[[Category: Wu, M]]