Aliases for KBTBD13 Gene
External Ids for KBTBD13 Gene
Previous GeneCards Identifiers for KBTBD13 Gene
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. [provided by RefSeq, Jun 2010]
GeneCards Summary for KBTBD13 Gene
KBTBD13 (Kelch Repeat And BTB Domain Containing 13) is a Protein Coding gene. Diseases associated with KBTBD13 include Nemaline Myopathy 6, Autosomal Dominant and Childhood-Onset Nemaline Myopathy. Among its related pathways are Immune System and Class I MHC mediated antigen processing and presentation. An important paralog of this gene is KLHL42.
UniProtKB/Swiss-Prot for KBTBD13 Gene
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.