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Article

Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase.

International journal of molecular sciences - 21 Jul 2021

Wachamo Samuel A, Patel Milan H, Varghese Paul K, Dolinska Monika B, Sergeev Yuri V

Abstract excerpt

Human tyrosinase (Tyr) is a glycoenzyme that catalyzes the first and rate-limiting step in melanin production, and its gene (TYR) is mutated in many cases of oculocutaneous albinism type 1 (OCA1). The mechanisms by which individual mutations contribute to the diverse pigmentation phenotype in patients with OCA1 have only began to be examined and remain to be delineated. Here, we analyze the temperature-dependent...

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Identifiers

PMID: 34360537
DOI: 10.3390/ijms22157771
PMCID: PMC8346126

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