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]
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Expressed in skeletal muscle.
DISEASE:
Defects in KBTBD13 are the cause of nemaline myopathy type 6 (NEM6) [MIM:609273]. A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.
Similarity:
Contains 1 BTB (POZ) domain.
Contains 5 Kelch repeats.
SWISS:
C9JR72
Gene ID:
390594
Database links:
Entrez Gene: 390594 Human
Omim: 613727 Human
SwissProt: C9JR72 Human
Unigene: 586890 Human
|
|
