Piebaldism is a rare autosomal dominant disorder of melanocyte development.[1]:867 Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead.
Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment all together.
It may be associated with KIT[2] or SNAI2.[3]
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G protein-coupled receptor
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Class A
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Class B
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Class C
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Class F
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Enzyme-linked receptor
(including
growth factor) |
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| JAK-STAT |
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| TNF receptor |
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| Lipid receptor |
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| Other/ungrouped |
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see also cell surface receptors
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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