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Article

Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Pigment cell & melanoma research - 1 Jan 2017

Dolinska Monika B, Kus Nicole J, Farney S Katie, Wingfield Paul T, Brooks Brian P, Sergeev Yuri V

Abstract excerpt

Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human tyrosinase intramelanosomal domain and mutant variants, which mimic genetic changes in both...

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Identifiers

PMID: 27775880
DOI: 10.1111/pcmr.12546
PMCID: PMC5568694

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