Genetic mutations disrupt the coordinated mode of tyrosinase intra-melanosomal domain.

ABSTRACT: Oculocutaneous albinism type 1 is a genetic disorder caused by the disruption of tyrosinase activity in the melanogenesis pathway. The tyrosinase's intramelanosomal domain can be subdivided into the catalytic and Cys-rich subdomains, integral for protein stability and catalytic activity. To understand the motions in the tyrosinase intra-melanosomal subdomains and their link to its catalytic activity, we perform essential dynamics on homology models for tyrosinase and the mutant variants R217Q, R402Q, and R217Q/R402Q. Dimensional reduction techniques, such as Principal Component Analysis (PCA), are fundamental to systematically comprehending collective motions in protein structure. The alpha-carbon atomic coordinates for all residues across a 100 ns molecular dynamic trajectory were input i

SUBMITTER: Toay S 

PROVIDER: S-EPMC12190754 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature