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What Cell Causes Albinism?

Published in Genetic Defect 2 mins read

Albinism isn't caused by a single cell type, but rather by a genetic defect affecting melanocytes. Melanocytes are specialized cells responsible for producing melanin, the pigment that gives skin, hair, and eyes their color. A change in one of the genes that control melanin production leads to albinism. Different types of albinism exist, depending on which gene is affected.

Understanding the Role of Melanocytes

  • Melanin Production: Melanocytes synthesize melanin, a crucial pigment determining the color of our skin, hair, and eyes.
  • Genetic Basis of Albinism: Albinism arises from genetic mutations impacting the functionality of melanocytes and their ability to produce melanin. These genetic changes can affect various genes involved in melanin synthesis.
  • Types of Albinism: The specific gene mutation determines the type and severity of albinism. For instance, oculocutaneous albinism (OCA) encompasses several subtypes, each linked to a different gene defect.

The provided references consistently highlight that albinism results from a genetic change affecting melanin production, rather than a malfunctioning cell type itself. The malfunction is in the genes that instruct the melanocytes. The melanocytes are still present, but they don't function correctly due to genetic error.

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