PMS1
PMEL
The PMEL (Premelanosome Protein) is a protein that plays a crucial role in the formation of melanosomes, which are specialized organelles responsible for the synthesis, storage, and transport of melanin, the pigment that gives color to skin, hair, and eyes. PMEL is also known by other names such as Pmel17, gp100, and Silver locus protein homolog.
Structure and Function[edit | edit source]
PMEL is a type I transmembrane glycoprotein that is primarily expressed in melanocytes, the cells responsible for melanin production. The protein undergoes a series of post-translational modifications, including glycosylation and proteolytic processing, which are essential for its function in melanosome biogenesis.
The primary function of PMEL is to form amyloid fibrils within the lumen of melanosomes. These fibrils serve as a scaffold for the deposition of melanin, facilitating the polymerization and stabilization of the pigment. The formation of these fibrils is a highly regulated process, and any disruption can lead to pigmentation disorders.
Genetics[edit | edit source]
The PMEL gene is located on chromosome 12 in humans. Mutations in this gene can lead to various pigmentation anomalies. For example, certain mutations are associated with the silver coat color in mice, which is due to a reduction in melanin production.
Clinical Significance[edit | edit source]
PMEL is a target for immunotherapy in melanoma, a type of skin cancer. The protein is overexpressed in melanoma cells, making it a useful marker for diagnosis and a potential target for therapeutic interventions. Monoclonal antibodies against PMEL, such as those used in cancer immunotherapy, can help in targeting melanoma cells for destruction by the immune system.
Research and Applications[edit | edit source]
Research on PMEL has provided insights into the mechanisms of melanosome formation and the pathogenesis of pigmentation disorders. Understanding the role of PMEL in melanin synthesis has implications for the development of treatments for conditions such as vitiligo, albinism, and melanoma.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
