6s4l

Structural highlights

Disease

KCTD1_HUMAN Scalp-ear-nipple syndrome. The disease is caused by mutations affecting the gene represented in this entry.

Function

KCTD1_HUMAN May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to various extent.^{[1] [2]}

References

1. ↑ 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. PMID:18358072 doi:http://dx.doi.org/10.1089/dna.2007.0662
2. ↑ Ding X, Luo C, Zhou J, Zhong Y, Hu X, Zhou F, Ren K, Gan L, He A, Zhu J, Gao X, Zhang J. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. J Cell Biochem. 2009 Feb 1;106(2):285-95. doi: 10.1002/jcb.22002. PMID:19115315 doi:http://dx.doi.org/10.1002/jcb.22002