KCTD17 (22q12.3) hajoi8ttaa trikopleiinia ( keratiinia sitovaa proteiinia) . Myoklonusdystonia 26.

https://www.ncbi.nlm.nih.gov/gene/79734

Official Symbol

KCTD17

Official Full Name

potassium channel tetramerization domain containing 17

Summary

This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]

Expression

Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues See more

     CDS             1..321
                     /gene="KCTD17"
                     /coded_by="NM_001282684.1:5..970"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS74854.1"
                     /db_xref="GeneID:79734"
                     /db_xref="HGNC:HGNC:25705"
                     /db_xref="MIM:616386"
ORIGIN      
        1 mqtprpamrm eageaappag aggraaggwg kwvrlnvggt vflttrqtlc reqksflsrl
       61 cqgeelqsdr detgaylidr dptyfgpiln flrhgklvld kdmaeegvle eaefynigpl
      121 iriikdrmee kdytvtqvpp khvyrvlqcq eeeltqmvst msdgwrfeql vnigssynyg
      181 sedqaeflcv vskelhstpn glssessrkt ksteeqleeq qqqeeeveev eveqvqvead
      241 aqekaqssqd panlfslppl pppplpaggs rphplrpeae lavrasprpl arpqschpcc
      301 ykpeapgcea pdhlqglgvp i

Related articles in PubMed

1. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Mencacci NE, et al. Am J Hum Genet, 2015 Jun 4. PMID 25983243, Free PMC Article
2. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. Pinkas DM, et al. Biochem J, 2017 Nov 1. PMID 28963344, Free PMC Article
3. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. Ji AX, et al. J Mol Biol, 2016 Jan 16. PMID 26334369
4. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. Kasahara K, et al. Nat Commun, 2014 Oct 1. PMID 25270598, Free PMC Article
5. Seventy-five genetic loci influencing the human red blood cell. van der Harst P, et al. Nature, 2012 Dec 20. PMID 23222517, Free PMC Article

See all (31) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs:

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.

 ( Huomaa pieniä polyproliini,  polyglutamiini ja polyglutamaattijaksoja)