Gene Symbol | KCTD1 |
Entrez Gene ID | 284252 |
Full Name | potassium channel tetramerization domain containing 1 |
Synonyms | C18orf5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Scalp-ear-nipple syndrome, 181270 (3) |