The KCNC4 gene encodes an integral membrane protein that functions as a voltage-gated potassium channel. Such channels react to a voltage difference across membranes and selectively allow potassium ions to permeate through. KCNC4 belongs to the delayed rectifier class of channel proteins that permit nerve cells to efficiently repolarize following an action potential. By carrying out its function the protein helps not only in potassium ion transport and chemical synaptic transmission but also neurotransmitter secretion and protein homooligomerization.
The KCNC4 gene is located on the short arm of chromosome 1. It spans a length of 72.3 kb of DNA and its coding sequence is spread across 6 exons. It encodes a 69.7 kDa protein product comprised of 635 amino acids. Several additional isoforms of the KCNC4 protein exist due to alternatively spliced transcript variants. The gene is widely expressed in the human body.
Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One 49-year-old patient with ataxia and dystonia was subjected to whole exome sequencing. The study uncovered a heterozygous mutation (c.23C>T, p.S8F) in exon 1 of the patient’s KCNC4 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant predicted to be deleterious and the expression of the gene had been found to be altered in patients with neurodegenerative disorders. The authors hoped that further studies would help confirm this association.
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