KCTD1 : potassium channel tetramerization domain containing 1


Description

The KCTD1 (potassium channel tetramerization domain containing 1) is a protein-coding gene located on chromosome 18.

The KCTD1 gene provides instructions for making a protein that acts as a transcriptional repressor, which means that it turns off (represses) the activity of certain genes when they are not needed. A region of the KCTD1 protein called the BTB domain is essential for the protein's transcriptional repressor function. The KCTD1 protein is thought to control (regulate) the activity of genes involved in the development of an embryonic cell layer called the ectoderm. Within the developing embryo, the ectoderm gives rise to several body tissues including the skin, hair, nails, and teeth.

KCTD1 may repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C, to varying degrees.

KCTD1 is also known as C18orf5.

Associated Diseases



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