MBG 1000 Lecture Notes - Lecture 9: Xeroderma Pigmentosum, Sunburn, Thymine

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Pigment is melanin, which colours and protects our cells and is synthesized in melanocytes: melanocytes form cellular extensions between other skin cells, which distributes melanin to other skin cells. Albinism is the absence of pigment it affects your skin, hair, and eyes: the absence of melanin can impact not only your eye colour, but your eyesight as well. Oculocutaneous albinism (oca) is classic albinism , also known as achromatism or. Hypopigmentation: oculo eyes of sense of vision; cutaneous relating to/affecting skin. The gene that causes albinism encodes the enzyme tyrosinase (chromosome 1: this makes it an autosomal recessive disorder. Many variations of oca are dependent on the body"s ability to produce and deliver melanin to target cells; this lack of ability if often linked to levels of reduced activity in. Tyrosinase: oca1a total absence of melanin (total absence of tyrosinase)

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