Potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene, which codes for voltage-gated potassium channel subunits, is mostly expressed in the brain. KCNQ2 is made up of heteromultimeric channels with six transmembrane domains (S1–S6) in each subunit. It belongs to the voltage-gated potassium channels (KCNQ) gene subfamily. KCNQ2 gene is located on human chromosome 20q13.33.
Immunogen
Synthetic peptide directed towards the middle region of human KCNQ2
Biochem/physiol Actions
Potassium voltage-gated channel subfamily Q member 2 (KCNQ2) plays a vital role in neurodevelopment. Mutations in the KCNQ2 gene are associated with benign familial neonatal infantile seizures (BFNIS), benign familial neonatal convulsions (BFNC), benign familial infantile seizures (BFIS), and neonatal onset epileptic encephalopathy (EE).
Sequence
Synthetic peptide located within the following region: GNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYI
Physical form
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
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Epilepsy & behavior case reports, 1, 35-38 (2013-01-01)
Benign familial neonatal seizures (BFNS) is an autosomal dominant disorder associated with heterozygous mutations of either the KCNQ2 or KCNQ3 gene. Most cases have mutations of the KCNQ2 gene. A handful of cases with KCNQ2 and CHRNA4 deletions have been
Frontiers in physiology, 11, 570588-570588 (2020-11-17)
Kv7.2 subunits encoded by the KCNQ2 gene constitute a critical molecular component of the M-current, a subthreshold voltage-gated potassium current controlling neuronal excitability by dampening repetitive action potential firing. Pathogenic loss-of-function variants in KCNQ2 have been linked to epilepsy since
Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy. The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age
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