Gene ontology is a framework used to describe gene functions. These terms cover three aspects: cellular component, molecular function, and biological process [1].
Cellular component: describes the extracellular component where gene products are active
Biological process: the pathways and activities of multiples gene products for biological processes.
Molecular function: the activities of gene products at a molecular level [1].
What is the gene ontology of CLCN1
Molecular function: The figure below shows the putative structure of the subunit as predicted by Dutzler et al.6 and Estévez et al.7 The 29 novel mutations are labeled with the amino acid change and shown as red squares. The known mutations are shown as yellow squares, with the amino acid change shown in bold only for the three most frequently occurring[2].
Cellular component: The CLCN1 protein is a protein that is mainly localized between membrane layers shown in figure 3. CLCN1 mRNA is also heavily expressed in skeletal muscle tissue and a small amount in testis, which makes sense since its mutation in the cell contributes to the detrimental muscle phenotypes observed in myotonia congentia and infertility (Figure 2).
figure 2: diagram showing the location of chloride channel between membranes
figure 3: expression of CLCN1 within different tissues
Biological process: CLCN1 protein is used to transport chloride ions to flow down its electrochemical gradient, when open. These channels are expressed on the cell membrane. CLC channels contribute to the excitability of these membranes as well as transport ions across the membrane. Figure 4 below shows the facilitation of chloride ions along with other ions across the membrane.
figure 4: diagram showing the facilitation of different ions across the cell membrane