KBTBD13 gene

kelch repeat and BTB domain containing 13

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Nemaline myopathy 6

From UniProt:

Nemaline myopathy 6 (NEM6): 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. [MIM:609273]

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31

Molecular Location: base pairs 65,076,816 to 65,079,938 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22.31, which is the long (q) arm of chromosome 15 at position 22.31
  • HCG1645727
  • NEM6