Gene Symbol: KCTD3
Description: potassium channel tetramerization domain containing 3
Alias: NY-REN-45, BTB/POZ domain-containing protein KCTD3, NY-REN-45 antigen, potassium channel tetramerisation domain containing 3, renal carcinoma antigen NY-REN-45
- Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAnas M Alazami
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia
Cell Rep 10:148-61. 2015..DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS)...
- Clinical exome sequencing: results from 2819 samples reflecting 1000 familiesDaniel Trujillano
Centogene AG, Rostock, Germany
Eur J Hum Genet 25:176-182. 2017..enabled timely diagnosing of genetic diseases, validation of causality of specific genetic disorders of PTPN23, KCTD3, SCN3A, PPOX, FRMPD4, and SCN1B, and setting dual diagnoses by detecting two causative variants in distinct genes ..
- A Genomic and Protein-Protein Interaction Analyses of Nonsyndromic Hearing Impairment in Cameroon Using Targeted Genomic Enrichment and Massively Parallel SequencingKamogelo Lebeko
1 Division of Human Genetics, Department of Pathology, Faculty of Health Sciences University of Cape Town, Cap Town, South Africa
OMICS . 2017..Furthermore, 10 genes (MYO7A, MYO6, KCTD3, NUMA1, MYH9, KCNQ1, UBC, DIAPH1, PSMC2, and RDX) were identified as significant hubs within the subnetworks...
- SETA is a multifunctional adapter protein with three SH3 domains that binds Grb2, Cbl, and the novel SB1 proteinsS C Borinstein
Department of Anatomy, Medical College of Virginia, Virginia Commonwealth University, Richmond, VA 23298, USA
Cell Signal 12:769-79. 2000..Evidence that SETA binds to the CD2 protein, the proto-oncogene c-Cbl, and the signal transduction molecule Grb2, and can dimerize via its C-terminal coiled coil (CC) domain is also presented...
- Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorderMartin Poot
Department of Medical Genetics, University Medical Centre Utrecht, Mail stop KC 04 084 2, P O Box 85090, 3508, Utrecht, The Netherlands
Neurogenetics 11:81-9. 2010..Second, we found another de novo deletion on chromosome 1q41, containing 15 annotated genes, including KCTD3 and USH2A...
- Up-regulation of hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) by specific interaction with K+ channel tetramerization domain-containing protein 3 (KCTD3)Xiaochun Cao-Ehlker
Center for Integrated Protein Science CIPS M and Zentrum für Pharmaforschung, Department Pharmazie, Ludwig Maximilians Universitat Munchen, 81377 Munich, Germany
J Biol Chem 288:7580-9. 2013..Here, we identify KCTD3, a so far uncharacterized member of the potassium channel tetramerization-domain containing (KCTD) protein family ..