Gene: KCTD7

Alternate names for this Gene: CLN14|EPM3

Gene Summary: This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.21

Description of this Gene: potassium channel tetramerization domain containing 7

Type of Gene: protein-coding

rs1554397834 in KCTD7 gene and EPILEPSY, PROGRESSIVE MYOCLONIC 3 PMID 22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

PMID 22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 2274208 1990 [Propofol with/without N2O versus thiopentone-isoflurane in surgery of supratentorial tumors].

PMID 27742667 2016 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

PMID 17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

PMID 22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

rs10272546 in KCTD7 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1554397774 in KCTD7 gene and Movement Disorders PMID 22638565 2012 A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.

PMID 25060828 2014 Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.

PMID 17455289 2007 Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.

PMID 21710140 2011 Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

PMID 22693283 2012 Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

PMID 22606975 2012 Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.

PMID 22748208 2012 A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

PMID 19084560 2009 Neuronal ceroid lipofuscinoses.

PMID 27742667 2016 Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

PMID 15778103 2005 Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.