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NCI: Human MERTK wild-type allele is located in the vicinity of 2q14.1 and is approximately 131 kb in length. This allele, which encodes proto-oncogene tyrosine-protein kinase MER protein, plays a role in tissue homeostasis and receptor signaling. Mutations in the gene have been associated with disruption of the retinal pigment epithelium phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa.
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