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The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. De plus, nous expédions KBTBD13 Anticorps (11) et KBTBD13 Kits (6) et beaucoup plus de produits pour cette protéine.
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these results demonstrate that KBTBD13 is a putative substrate adaptor for Cul3 (Montrer CUL3 Protéines)-RL that functions as a muscle specific (Montrer EIF3K Protéines) ubiquitin ligase, and thereby implicate the ubiquitin proteasome pathway in the pathogenesis of KBTBD13-associated NEM.
mutation screening led to the identification of a previously uncharacterized gene, KBTBD13, coding for a hypothetical protein and containing missense mutations that perfectly cosegregate with nemaline myopathy in the studied families
The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and cytoskeleton regulation. The exact function of this family member has yet to be determined.
kelch repeat and BTB domain-containing protein 13
, nemaline myopathy type 6