Genomes and Genes
Gene Symbol: KCTD7
Description: potassium channel tetramerization domain containing 7
Alias: CLN14, EPM3, BTB/POZ domain-containing protein KCTD7, potassium channel tetramerisation domain containing 7
- Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxiaSali M K Farhan
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada
Epilepsia 55:e106-11. 2014..We identified p.Tyr276Cys in the potassium channel tetramerization domain-containing seven gene, KCTD7, which is expressed predominantly in the brain...
- The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populationsYesha M Patel
Department of Preventive Medicine and Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, California
Cancer Epidemiol Biomarkers Prev 24:119-27. 2015..Evaluating the role of genetics in nicotine metabolism is likely important in understanding these differences, as disparities in risk may be related to differences in nicotine dose and metabolism...
- KCTD7-related progressive myoclonus epilepsyPatrick Van Bogaert
Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Belgium
Epileptic Disord 18:115-119. 2016Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy...
- Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transportMarivi Nabong Moen
1 The Institute of Basic Medical Sciences, Department of Molecular Medicine, University of Oslo, Oslo, Norway
Brain 139:3109-3120. 2016..the proband we identified a novel homozygous frameshift variant in the potassium channel tetramerization domain 7 (KCTD7) gene (NM_153033.1:c.696delT: p.F232fs), which results in a truncated protein...
- Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosisRobert J Huber
Department of Biology, Trent University, 2140 East Bank Drive, Peterborough, ON, K9J 7B8, Canada
J Biomed Sci 23:83. 2016..TPP1/CLN2, CTSD/CLN10, CTSF/CLN13), proteins that peripherally associate with membranes (DNAJC5/CLN4, KCTD7/CLN14), a soluble lysosomal protein (CLN5), a protein present in the secretory pathway (PGRN/CLN11), and several ..
- Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
Ann Hum Genet 76:326-31. 2012..The potassium channel tetramerization domain containing 7 gene (KCTD7) in the 7q11.21 linkage region emerged as a suitable candidate...
- A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndromeLubov Blumkin
Pediatric Neurology, Wolfson Medical Center, Holon, Israel
J Neurol 259:2590-8. 2012Mutations in the potassium channel-related gene KCTD7 were described so far in a single family with progressive myoclonus epilepsy...
- Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy geneMaria Kousi
Folkhalsan Institute of Genetics, Biomedicum Helsinki, PO Box 63, Haartmaninkatu 8, University of Helsinki, FIN 00014 Helsinki, Finland
J Med Genet 49:391-9. 2012..This study aimed to identify the underlying gene(s) in childhood onset PME patients with unknown molecular genetic background...
- A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome systemJohn F Staropoli
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
Am J Hum Genet 91:202-8. 2012..Using a recessive model to filter the identified variants, we found a single homozygous variant, c.550C>T in KCTD7, that causes a p...
- Mutation of a potassium channel-related gene in progressive myoclonic epilepsyPatrick Van Bogaert
Department of Pediatric Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
Ann Neurol 61:579-86. 2007..We investigated a large consanguineous Moroccan family with progressive myoclonic epilepsy (PME) consistent with autosomal recessive inheritance, to describe the phenotype and identify the causal gene...
- Genome-wide joint SNP and CNV analysis of aortic root diameter in African Americans: the HyperGEN studyNathan E Wineinger
Department of Biostatistics, University of Alabama at Birmingham, Birmingham, AL, USA
BMC Med Genomics 4:4. 2011..We report a genome-wide association study on aortic root diameter among African Americans enrolled in the HyperGEN study. We invoked a two-stage, mixed model procedure to jointly identify SNP allele and copy number variation effects...
- Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neuronsRegis Azizieh
Institute of Interdisciplinary Research IRIBHM ULB, Brussels, Belgium
Mol Neurobiol 44:111-21. 2011The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à brac/poxvirus and zinc finger domain with the T1 domain of ..