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Normal Function
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.
Health Conditions Related to Genetic Changes
Scalp-ear-nipple syndrome
At least 10 mutations in the KCTD1 gene have been identified in people with scalp-ear-nipple syndrome; as its name suggests, this condition is characterized by abnormalities of the scalp, ears, and nipples. The mutations associated with scalp-ear-nipple syndrome affect the BTB domain of the KCTD1 protein and impair its transcriptional repressor function. This impairment results in abnormal regulation of genes involved in ectodermal development. The altered gene activity disrupts normal development of the tissues that arise from the ectoderm (ectodermal dysplasia) and leads to the signs and symptoms of scalp-ear-nipple syndrome.
More About This Health ConditionOther Names for This Gene
- C18orf5
- potassium channel tetramerisation domain containing 1
- potassium channel tetramerization domain-containing protein 1
- SENS
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Ding XF, Luo C, Ren KQ, Zhang J, Zhou JL, Hu X, Liu RS, Wang Y, Gao X, Zhang J. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions. DNA Cell Biol. 2008 May;27(5):257-65. doi: 10.1089/dna.2007.0662. Citation on PubMed
- Li X, Chen C, Wang F, Huang W, Liang Z, Xiao Y, Wei K, Wan Z, Hu X, Xiang S, Ding X, Zhang J. KCTD1 suppresses canonical Wnt signaling pathway by enhancing beta-catenin degradation. PLoS One. 2014 Apr 15;9(4):e94343. doi: 10.1371/journal.pone.0094343. eCollection 2014. Citation on PubMed or Free article on PubMed Central
- Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Citation on PubMed or Free article on PubMed Central
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