| Interacting proteins: Q08043 and P35609 |
Pubmed |
SVM Score :0.0 |
| We studied expression of the skeletal muscle isoforms of alpha actinin ( alpha actinin 2 and alpha actinin 3 ) in muscle biopsies from 12 patients with pure CMD ( including one with a merosin abnormality ) , two with unclassified CMD and central nervous system ( CNS ) involvement , and three with other neuromuscular disorders . ^^^ |
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| Interacting proteins: Q08043 and P35609 |
Pubmed |
SVM Score :0.0 |
| Here we present evidence gained through phylogenetic analyses of the highly conserved actin binding domain that alpha actinin 2 was the first of the four alpha actinins to arise by gene duplication , followed by the divergence of alpha actinin 3 and then alpha actinins 1 and 4 . ^^^ |
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| Interacting proteins: Q08043 and P35609 |
Pubmed |
SVM Score :0.0 |
| The absence of a disease phenotype secondary to alpha actinin 3 deficiency is likely due to compensation by the homologous protein , alpha actinin 2 . ^^^ |
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| Interacting proteins: Q08043 and P35609 |
Pubmed |
SVM Score :0.0 |
| Using this short clone as a probe , we isolated and characterized full length cDNA clones for two human alpha actinin genes ( ACTN 2 and ACTN 3 ) . ^^^ ACTN 2 is the human homolog of a previously characterized chicken gene while ACTN 3 represents a novel gene product . ^^^ Northern blot analysis demonstrated that ACTN 2 is expressed in both skeletal and cardiac muscle , but ACTN 3 expression is limited to skeletal muscle . ^^^ As with other muscle specific isoforms , the EF hand domains in ACTN 2 and ACTN 3 are predicted to be incapable of binding calcium , suggesting that actin binding is not calcium sensitive . ^^^ ACTN 2 was mapped to human chromosome 1q42 q 43 and ACTN 3 to 11q13 q 14 by somatic cell hybrid panels and fluorescent in situ hybridization . ^^^ |
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| Interacting proteins: Q08043 and P35609 |
Pubmed |
SVM Score :0.0 |
| NA |
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