人类 ARL3 基因突变导致富含脂类的货物向纤毛运输异常，从而引发视网膜营养不良。
Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.
机构信息
Department of Ophthalmology and Visual Science, University of Michigan, Ann Arbor, MI, USA.
Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI, USA.
出版信息
Adv Exp Med Biol. 2023;1415:283-288. doi: 10.1007/978-3-031-27681-1_41.
Photoreceptors are highly polarized sensory neurons. Precise localization of signaling molecules within the ciliary outer segment is critical for photoreceptor function and viability. The small GTPase Arl3 plays a particularly important role in photoreceptors as it regulates outer segment enrichment of lipidated proteins essential for the visual response: transducin-α, transducin-γ, PDEα, PDE β, and Grk1. Recently, mutations in Arl3 have been identified in human patients with nonsyndromic autosomal recessive and dominant inherited retinal degenerations as well as syndromic Joubert syndrome including retinal dystrophy.
感光器是高度极化的感觉神经元。信号分子在纤毛外节内的精确定位对于感光器的功能和存活至关重要。小分子 GTP 酶 Arl3 在感光器中起着特别重要的作用，因为它调节视觉反应所必需的脂化蛋白在外节的富集：转导蛋白-α、转导蛋白-γ、PDEα、PDEβ和 Grk1。最近，在患有非综合征常染色体隐性和显性遗传性视网膜变性以及包括视网膜营养不良的综合征性 Joubert 综合征的人类患者中发现了 Arl3 突变。
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