Mutations at critical N-glycosylation sites reduce tyrosinase activity by altering folding and quality control.
Tyrosinase is a copper-containing enzyme that regulates melanin biosynthesis in mammals. Mutations at a single N-glycosylation sequon of tyrosinase have been reported to be responsible for oculocutaneous albinism type IA in humans, characterized by inactive tyrosinase and the total absence of pigmen...
| Autori principali: | , , , , , , , |
|---|---|
| Natura: | Journal article |
| Lingua: | English |
| Pubblicazione: |
2000
|