five

Slc24a4

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rgd.mcw.edu2025-01-22 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1620579
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Enables calcium, potassium:sodium antiporter activity; calcium-dependent protein binding activity; and calmodulin binding activity. Involved in several processes, including calcium ion transmembrane transport; cellular response to high light intensity; and cone photoresponse recovery. Acts upstream of or within positive regulation of gene expression. Located in several cellular components, including cone photoreceptor outer segment; plasma membrane; and vesicle. Is active in apical plasma membrane. Is expressed in several structures, including central nervous system; eye; stomach; testis; and thymus. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A5 and pigmentation disease. Orthologous to human SLC24A4 (solute carrier family 24 member 4). [provided by Alliance of Genome Resources, Nov 2024]

激活钙、钾钠反向转运蛋白活性;钙依赖性蛋白结合活性;以及钙调蛋白结合活性。参与多种过程,包括钙离子跨膜转运;细胞对高光强度的反应;以及视锥细胞光反应恢复。在基因表达的正向调控中位于上游或其中。位于多种细胞成分中,包括视锥细胞外节;质膜;和囊泡。在顶端质膜上具有活性。在多个结构中表达,包括中枢神经系统;眼;胃;睾丸;和胸腺。此基因的人类同源基因与发育不良型2A5和色素沉着病有关。与人类SLC24A4(溶质转运家族24成员4)同源。[由基因组资源联盟提供,2024年11月]
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