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重组膜相关磷脂转运蛋白
产品名称 Recombinant PITPNM3 Recombinant PITPNM family member 3 protein 产品介绍
基因名： PITPNM3 产品别名： ACKR6； CORD5； NIR1； RDGBA3； PITPNM3； PITPNM family member 3； PITPNM family member 3； membrane-associated phosphatidylinositol transfer protein 3； NIR-1； PITPnm 3； PYK2 N-terminal domain-interacting receptor 1； atypical chemokine receptor 6； cone rod dystrophy 5； phosphatidylinositol transfer protein, membrane-associated 3； retinal degeneration B alpha 3； 膜相关磷脂转运蛋白； 背景信息： Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions. Involvement in disease: Defects in PITPNM3 are the cause of cone-rod dystrophy type 5 (CORD5) . CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. |
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