2kdg: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br> | <table><tr><td colspan='2'>[[2kdg]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KDG OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KDG FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | </td></tr><tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MYOT, TTID ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 Homo sapiens])</td></tr> | ||
<tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</span></td></tr> | <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=2kdg FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kdg OCA], [http://www.rcsb.org/pdb/explore.do?structureId=2kdg RCSB], [http://www.ebi.ac.uk/pdbsum/2kdg PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref> | [[http://www.uniprot.org/uniprot/MYOTI_HUMAN MYOTI_HUMAN]] Defects in MYOT are the cause of limb-girdle muscular dystrophy type 1A (LGMD1A) [MIM:[http://omim.org/entry/159000 159000]]. LGMD1A is an autosomal dominant degenerative myopathy with onset within a mean age of 28 years. LGMD1A is characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line.<ref>PMID:10958653</ref> <ref>PMID:12428213</ref> Defects in MYOT are the cause of myopathy myofibrillar type 3 (MFM3) [MIM:[http://omim.org/entry/609200 609200]]. A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits.<ref>PMID:15111675</ref> Defects in MYOT are the cause of spheroid body myopathy (SBM) [MIM:[http://omim.org/entry/182920 182920]]. SBM is an autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers.<ref>PMID:16380616</ref> | ||
| Line 36: | Line 36: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Carpen, O | [[Category: Carpen, O]] | ||
[[Category: Heikkinen, O | [[Category: Heikkinen, O]] | ||
[[Category: Kilpelainen, I | [[Category: Kilpelainen, I]] | ||
[[Category: Koskela, H | [[Category: Koskela, H]] | ||
[[Category: Permi, P | [[Category: Permi, P]] | ||
[[Category: Ylanne, J | [[Category: Ylanne, J]] | ||
[[Category: Actin-binding]] | [[Category: Actin-binding]] | ||
[[Category: Cell membrane]] | [[Category: Cell membrane]] | ||