BK channels are a type of large-conductance potassium channel that can be activated by both intracellular calcium ions and membrane depolarization. The channel consists of 4 alpha subunits encoded by the KCNMA1 gene as well as tissue-specific optional auxiliary subunits encoded by different genes. The LRRC52 gene is responsible for encoding one such auxillary gamma subunit of the BK channel. The LRRC52 subunit is found to regulate channel gating properties such as adjusting potassium-ion current kinetics and apparent calcium sensitivity as well as altering the channel’s voltage dependence of activation toward more negative voltages.
The LRRC52 gene, located on the long arm of chromosome 1, spans a length of 19.9 kb of DNA. Its coding sequence is contained within just 2 exons and it encodes a 35 kDa protein product composed of 313 amino acids. The gene is primarily found to be expressed in the testis and skeletal muscle.
Monies et al. (2017) investigated the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. A 25-year-old female suffering from muscle weakness was tested using whole exome sequencing. The study identified a heterozygous mutation (c.659delT, p.L220fs) in exon 2 of the patient’s LRRC52 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant predicted to be deleterious, the gene is strongly expressed in skeletal muscles and the LRRC52 protein modifies BK potassium channels. The authors hoped that further studies would help confirm this association.
View PDF version of Leucine-Rich Repeat-Containing Protein 52
To contribute with your findings to the content of this record, please fill the CTGA Database Information Submission Form and email it, along with supportive documents, to firstname.lastname@example.org.