Home > Gene Browser > KBTBD13

KBTBD13

Synonyms
HCG1645727, NEM6
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
341
Likely benign
589
Benign
1,158

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KBTBD13 gene.

Phenotype class
Patients in 3billion (%)

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