Introduction: Heimler syndrome is caused by mutations in the PEX6 gene. Heimler syndrome is a rare inherited systemic disorder that clinically overlaps relatively with Usher syndrome. Until today, our knowledge of Heimler's syndrome is very limited and in many cases the disease has been misdiagnosed or left undiagnosed. This study aims to analyze the bioinformatic characteristics of this disorder and evaluate the stability of this gene.
Methods: The characteristics of this gene were checked by GC counter and protparam sites.
Results: The results of the study showed that the percentage of GC was 44.8%. The theoretical pI of the investigated protein was 5.79. In this range, the target protein is precipitated. The higher the GC percentage of the examined protein, the more stable that protein is. Also, the instability index and aliphatic index for PEX6 in the studied 47.70 and 93.53, respectively. Average GRAVY (hydrophobic property of protein) calculated for proteins is obtained by dividing the sum of hydropathy calculated for all amino acids in the protein by the total number of amino acids of that protein. In this research, Grand average of hydropathicity (GRAVY) -0.196 was obtained, which indicates the non-polarity of the investigated protein.
Conclusion: The results of bioinformatic analysis showed that this protein is not among the stable proteins and is not able to maintain its structure completely at high temperatures.