8PNR

Structure of human KCTD15 BTB domain mutant G88D crystal form 1

Summary for 8PNR

• Entry DOI: 10.2210/pdb8pnr/pdb
• Descriptor: BTB/POZ domain-containing protein KCTD15 (2 entities in total)
• Functional Keywords: oligomerisation, btb domain, gene regulation
• Biological source: Homo sapiens (human)
• Total number of polymer chains: 12
• Total formula weight: 166976.53

Authors

Cruz Walma, D.A.,Cros, J.,Bradshaw, W.,Richardson, W.,Chen, Z.,Chalk, R.,Wilkie, A.,Bullock, A.N. (deposition date: 2023-06-30, release date: 2024-03-20, Last modification date: 2024-05-01)

Primary citation

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

Experimental method

X-RAY DIFFRACTION (2.25 Å)