KCTD1 potassium channel tetramerization domain containing 1
Gene ID: 284252, updated on 5-Mar-2024Gene type: protein coding
Also known as: C18orf5
- See all available tests in GTR for this gene
- Go to complete Gene record for KCTD1
- Go to Variation Viewer for KCTD1 variants
Summary
This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. GeneReviews: Not available | |
| Scalp-ear-nipple syndrome | See labs |
Genomic context
- Location:
- 18q11.2
- Sequence:
- Chromosome: 18; NC_000018.10 (26454910..26657473, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCTD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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