CTNS Membrane Protein Introduction

Introduction of CTNS

CTNS is a membrane protein of lysosome which is filled with hydrolases involved in the degradation of diverse macromolecules. CTNS is encoded by the CTNS gene which is located on 17p13 and contains 12 exons, the first two of which are non-coding. The molecular weight of CTNS is 41,738 Da in human. Generally, CTNS is the causative gene of Cystinosis which is an inherited disorder characterized by defective lysosomal efflux of cystine.

Function of CTNS Membrane Protein

CTNS is a lysosomal membrane protein which owns L-cystine transmembrane transporter activity. It also plays a vital role in many biological processes, such as adult walking behavior, lens development in camera-type eye, positive regulation of mitochondrial membrane potential and so on. Beyond that, CTNS is an H⁺-driven cystine transporter that exports cystine out of the lysosomes. At the same time, CTNS takes part in the control cystine content in melanosomes, it also plays a key role in the control of melanosome PH, which seems to be a pivotal parameter in proper tyrosinase targeting to the melanosomal compartment. What’ s more, mutants of CTNS also function in lots of diseases. In term of structure, CTNS is predicted to contain seven transmembrane domains, a 128-amino acid N-terminal region bearing seven N-glycosylation sites, and a 10-amino acid cytosolic C-terminal tail. The C-terminal tail of CTNS is predicted to be oriented towards the cytosol and the N-terminal region towards the lysosomal lumen, and N- terminal region is highly glycosylated.

Fig.1 Position of each class of transport-altering mutations on the topological model of cystinosin (Kalatzis, 2004).

Application of CTNS Membrane Protein in Literature

1. Deshpande A.A., et al. Genetic Screen for Investigating the Human Lysosomal CystineTransporter, Cystinosin. Scientific Reports. 2018, 8(1). PubMed ID: 29467429
   
   

   Authors in this article developed a dual strategy for evaluating CTNS function that is amenable to rapid genetic analysis, they isolated several gains of function mutants by the strategy. The screen could be effectively used for interrogating and understanding the CTNS protein.

2. Lobry T., et al. New interaction between galectin-3 and cystinosin reveals a role of inflammation in kidney pathogenesis in cystinosis. Molecular Genetics & Metabolism. 2018, 123(2): S88.
   
   

   This article suggests that new interaction between galectin-3 and CTNS reveals a role of inflammation in kidney pathogenesis in cystinosis. Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine.

3. Claramunttaberner D., et al. Bone disease in nephropathic cystinosis is related to cystinosin-induced osteoclastic dysfunction. Nephrol Dial Transplant. 2018. PubMed ID: 29365190
   
   

   This article reveals that CTNS is required for proper osteoclastic activity, bone disease in nephropathic cystinosis is associated with cystinosin-induced osteoclastic dysfunction.

4. Chiaverini C., et al. Cystinosin is a melanosomal protein that regulates melanin synthesis. Faseb Journal Official Publication of the Federation of American Societies for Experimental Biology. 2012, 26(9): 3779. PubMed ID: 22649030
   
   

   This article suggests that CNTS is related to melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.

5. Kalatzis V., et al. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Human Molecular Genetics. 2004, 13(13): 1361-1371. PubMed ID: 15128704
   
   

   This article reveals molecular pathogenesis of cystinosis, it is related to the effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

CTNS Preparation Options

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Reference

1. Kalatzis, V., et al. (2004). Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Human Molecular Genetics, 13(13), 1361-1371.

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