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Evolutionary inferences on lysosomal membrane proteins (LMPs) defective in metabolic disorders: Cystinosin and Sialin

Manish Dwivedi and Dwijendra K. Gupta

Cystinosin and sialin proteins are the major constituent of lysosomal membrane and play an important role in the transport of the metabolite across the lysosomal membrane. Any mutation in these genes causes autosomal recessive lysosomal storage disorders named as cystinosis and salla disease. To understand cause of these metabolic disorders and their evolutionary relation, genomics based study of these proteins were facilitated by bioinformatics tools like BLAST, ClustalW, MEGA4, BioEdit (version 7.0.5.3) etc. This work established the molecular phylogenetic relationship among the different taxa of cystinosin and sialin. Structural properties were concluded by their amino acid frequency, hydrophobicity profile, entropy and conserved domains present. Both the protein showed that mean hydrophobicity for most of the positions in all the species was around zero and was basically hydrophobic in nature. These informations facilitate to explore the molecular basis of the lysosomal storage disorders and cell biologic features along with the subcellular localization of the proteins leading to predict the exact function in the lysosomal membrane and enable us to understand the critical regions of the proteins studied