The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.

摘要: sorted more eciently at 31 ∞C than 37 ∞C, and their degradation was accelerated compared with ∞C. Thus in contrast to the current concept that mutant tyrosinases are transported melanosomes but functionally inactive there, our results suggest may not be first place. We conclude a significant component of tyrosinase malfunction OCA1 from retention ER compartment. This quality-control process is highly sensitive minimal changes protein folding, so even relatively minor mutations peripheral sequences enzyme involved catalytic activity result reduction functional melanosomes.