8PNM

Structure of human KCTD15 BTB domain mutant G88D crystal form 2

8PNM の概要

• エントリーDOI: 10.2210/pdb8pnm/pdb
• 分子名称: BTB/POZ domain-containing protein KCTD15 (2 entities in total)
• 機能のキーワード: oligomerisation, btb domain, gene regulation
• 由来する生物種: Homo sapiens (human)
• タンパク質・核酸の鎖数: 12
• 化学式量合計: 166976.53

構造登録者

Cruz Walma, D.A.,Cros, J.,Bradshaw, W.,Richardson, W.,Chen, Z.,Chalk, R.,Wilkie, A.,Bullock, A.N. (登録日: 2023-06-30, 公開日: 2024-03-20, 最終更新日: 2024-05-01)

主引用文献

Miller, K.A.,Cruz Walma, D.A.,Pinkas, D.M.,Tooze, R.S.,Bufton, J.C.,Richardson, W.,Manning, C.E.,Hunt, A.E.,Cros, J.,Hartill, V.,Parker, M.J.,McGowan, S.J.,Twigg, S.R.F.,Chalk, R.,Staunton, D.,Johnson, D.,Wilkie, A.O.M.,Bullock, A.N.
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
J Med Genet, 61:490-501, 2024

PubMed Abstract: encodes an oligomeric BTB domain protein reported to inhibit neural crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation by TFAP2. Heterozygous missense variants in the closely related paralogue KCTD1 cause scalp-ear-nipple syndrome.

PubMed: 38296633
DOI: 10.1136/jmg-2023-109531

実験手法

X-RAY DIFFRACTION (1.94 Å)