BTB/POZ domain-containing protein KCTD17 isoform 2 [Homo sapiens]

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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. [Am J Hum Genet. 2015]
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, et al. Am J Hum Genet. 2015 Jun 4; 96(6):938-47. Epub 2015 May 14.
Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. [Biochem J. 2017]
Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases.
Pinkas DM, Sanvitale CE, Bufton JC, Sorrell FJ, Solcan N, Chalk R, Doutch J, Bullock AN. Biochem J. 2017 Nov 1; 474(22):3747-3761. Epub 2017 Nov 1.
Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. [J Mol Biol. 2016]
Structural Insights into KCTD Protein Assembly and Cullin3 Recognition.
Ji AX, Chu A, Nielsen TK, Benlekbir S, Rubinstein JL, Privé GG. J Mol Biol. 2016 Jan 16; 428(1):92-107. Epub 2015 Aug 31.

RefSeq genomic sequence
See the genomic reference sequence for the KCTD17 gene (NG_052003.1).
RefSeq mRNA
See reference mRNA sequence for the KCTD17 gene (NM_024681.4).
RefSeq protein isoforms
See 22 reference sequence protein isoforms for the KCTD17 gene.

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NP_078957 [Domain Mapping of Disease Mut...]
NP_078957
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
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Protein