Article
A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1
2024-06-14
Abstract excerpt
<h4>SUMMARY</h4> KCTD family proteins typically assemble into Cullin-RING E3 ligases. KCTD1 is an atypical member that functions instead as a transcriptional repressor. Mutations in KCTD1 cause developmental abnormalities and kidney fibrosis in scalp-ear-nipple syndrome. Here, we present unexpected mechanistic insights from the structure of full-length KCTD1. Disease-causing mutation P20S maps to an unrecognized...
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Identifiers and source
- Literature Corpus work
- b957dbef-b671-57e7-b1d3-9b7e19f4382a
- DOI
- 10.1101/2024.06.14.599093
