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Article

Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish.

G3 (Bethesda, Md.) - 30 Sept 2022

Iwanami Norimasa, Ozaki Yuka, Sakaguchi Hiyori, Watanabe Yuko, Meng Qi, Matsumoto Kyoka, Suzuki Tomohiro, Hitomi Kiyotaka, Matsuda Masaru

Abstract excerpt

Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by albinism, visual impairment, and blood platelet dysfunction. One of the genes responsible for Hermansky-Pudlak syndrome, hps1, regulates organelle biogenesis and thus plays important roles in melanin production, blood clotting, and the other organelle-related functions in humans and mice. However, the function of hps1 in other species...

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Albinism
Blood Coagulation
Hemorrhagic Disorders
Hermanski-Pudlak Syndrome
Mammals

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

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Identifiers

PMID: 35944207
DOI: 10.1093/g3journal/jkac204
PMCID: PMC9526055

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