KBTBD8 kelch repeat and BTB domain containing 8
Gene ID: 84541, updated on 28-Oct-2024Gene type: protein coding
Also known as: TAKRP; TA-KRP
- See all available tests in GTR for this gene
- Go to complete Gene record for KBTBD8
- Go to Variation Viewer for KBTBD8 variants
Summary
Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available |
Genomic context
- Location:
- 3p14.1
- Sequence:
- Chromosome: 3; NC_000003.12 (66998307..67011210)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KBTBD8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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