KCTD1, Official Symbol KCTD1provided by HGNC Official Full Name potassium channel tetramerization domain containing 1provided by HGNC Primary source HGNC:HGNC:18249 See related Ensembl:ENSG00000134504 MIM:613420; AllianceGenome:HGNC:18249 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C18orf5 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] Expression Broad expression in skin (RPKM 10.7), esophagus (RPKM 8.1) and 21 other tissues See more Orthologs mouse all