Aliases for KCTD1 Gene
External Ids for KCTD1 Gene
Previous HGNC Symbols for KCTD1 Gene
Previous GeneCards Identifiers for KCTD1 Gene
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]
GeneCards Summary for KCTD1 Gene
KCTD1 (Potassium Channel Tetramerization Domain Containing 1) is a Protein Coding gene. Diseases associated with KCTD1 include Scalp-Ear-Nipple Syndrome and Subependymal Glioma. Among its related pathways are Gene Expression and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription corepressor activity. An important paralog of this gene is KCTD15.
UniProtKB/Swiss-Prot for KCTD1 Gene
May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.