人 CRX 抗体对
01AB03994
Cone-rod homeobox protein (CRX) is a transcription factor essential for the development and maintenance of photoreceptor cells in the retina, specifically rods and cones, which are critical for vision. Characterized by its homeodomain, CRX binds to specific DNA sequences to regulate genes involved in phototransduction and photoreceptor cell differentiation. Mutations in the CRX gene are associated with various inherited retinal diseases, including retinitis pigmentosa, cone-rod dystrophy, and Leber congenital amaurosis, leading to progressive vision loss. These mutations often result in reduced or dysfunctional CRX protein, impairing the transcriptional regulation necessary for photoreceptor survival and function. The severity of vision impairment can vary significantly among individuals with CRX mutations, indicating the influence of additional genetic or environmental factors.
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技术参数
- 靶点基因名
- CRX
- 基因别名
- CORD2
- 蛋白别名
- cone-rod homeobox; CRX
- UniProt
- O43186
- 物种
- Human
产品详情
- 靶点名称
- CRX
- 蛋白名称
- cone-rod homeobox
- 蛋白别名
- Cone-rod homeobox protein
- 靶点基因名
- CRX
- 基因别名
- CORD2
- UniProt
- O43186
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Cone-rod homeobox protein (CRX) is a transcription factor essential for the development and maintenance of photoreceptor cells in the retina, specifically rods and cones, which are critical for vision. Characterized by its homeodomain, CRX binds to specific DNA sequences to regulate genes involved in phototransduction and photoreceptor cell differentiation. Mutations in the CRX gene are associated with various inherited retinal diseases, including retinitis pigmentosa, cone-rod dystrophy, and Leber congenital amaurosis, leading to progressive vision loss. These mutations often result in reduced or dysfunctional CRX protein, impairing the transcriptional regulation necessary for photoreceptor survival and function. The severity of vision impairment can vary significantly among individuals with CRX mutations, indicating the influence of additional genetic or environmental factors.