人 SAG 抗体对
01AB02686
S-antigen visual arrestin (SAG), also known as S-arrestin, is a major soluble protein found in photoreceptor cells of the retina and pineal gland, where it plays a critical role in the desensitization of the photoactivated transduction cascade by binding to photoactivated, phosphorylated rhodopsin (RHO) and terminating RHO signaling via G-proteins, thus preventing overstimulation and light-dependent degeneration of retinal photoreceptor cells. SAG is highly antigenic and can induce experimental autoimmune uveoretinitis. Mutations in the SAG gene are associated with two main diseases: Oguchi disease, a rare autosomal recessive form of night blindness, and Retinitis Pigmentosa 47, which can result from dominant-acting missense mutations such as c.440G>T (p.Cys147Phe) that cause protein misfolding and instability, leading to progressive retinal degeneration.
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技术参数
- 靶点基因名
- SAG
- 蛋白别名
- S-antigen visual arrestin; SAG
- UniProt
- P10523
- 物种
- Human
产品详情
- 靶点名称
- SAG
- 蛋白名称
- S-antigen visual arrestin
- 蛋白别名
- S-arrestin; 48 kDa protein; Retinal S-antigen; S-AG; Rod photoreceptor arrestin
- 靶点基因名
- SAG
- UniProt
- P10523
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
S-antigen visual arrestin (SAG), also known as S-arrestin, is a major soluble protein found in photoreceptor cells of the retina and pineal gland, where it plays a critical role in the desensitization of the photoactivated transduction cascade by binding to photoactivated, phosphorylated rhodopsin (RHO) and terminating RHO signaling via G-proteins, thus preventing overstimulation and light-dependent degeneration of retinal photoreceptor cells. SAG is highly antigenic and can induce experimental autoimmune uveoretinitis. Mutations in the SAG gene are associated with two main diseases: Oguchi disease, a rare autosomal recessive form of night blindness, and Retinitis Pigmentosa 47, which can result from dominant-acting missense mutations such as c.440G>T (p.Cys147Phe) that cause protein misfolding and instability, leading to progressive retinal degeneration.