G Protein Coupled Receptor 143 (GPR143)

GPR143 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. According to the ribosome scanning model of translation, the weak Kozak signal of the upstream start codon would make it subject to leaky scanning, and thus the downstream start codon, which has a stronger Kozak signal, would be used. However, there is no experimental evidence showing which start codon is used in vivo. Thus, the use of the upstream start codon, at least some of the time, cannot be ruled out.