Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathogenic.
PMEL is a pigment cell-specific protein that forms physiological amyloid fibrils upon which melanins ultimately deposit in the lumen of the pigment organelle, the melanosome. Whereas hypomorphic PMEL mutations in several species result in a mild pigment dilution that is inherited in a recessive mann...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2011-09-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC3174235?pdf=render |