Gene: KCTD1

Alternate names for this Gene: C18orf5

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q11.2

Description of this Gene: potassium channel tetramerization domain containing 1

Type of Gene: protein-coding

rs7240205 in KCTD1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs587776998 in KCTD1 gene and SCALP-EAR-NIPPLE SYNDROME PMID 23541344 2013 Mutations in KCTD1 cause scalp-ear-nipple syndrome.

rs16942421 in KCTD1 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs16942421 in KCTD1 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.