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 Progressive Myoclonus Epilepsy 1A. Among its related pathways are Sweet Taste Signaling and Hepatic ABC Transporters. 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 Summary for KCTD1 Gene
May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.