GPR143 Back

G protein-coupled receptor 143

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NCBI Description of GPR143
This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GPR143 is highly significantly mutated in
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GPR143 is significantly mutated in
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GPR143 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GPR143