人 MFRP 抗体对
01AB01229
Membrane frizzled-related protein (MFRP) is a single-pass transmembrane protein predominantly expressed in the retinal pigment epithelium (RPE) of the vertebrate eye, where it plays a crucial role in eye development and retinal homeostasis. MFRP belongs to the frizzled-related protein family and is involved in the Wnt signaling pathway, mediating cell fate determination and maintaining the organization of the retinal lipidome, particularly by regulating the enrichment of docosahexaenoic acid (DHA) and very long-chain polyunsaturated fatty acids (VLC-PUFAs) essential for photoreceptor function. It interacts with other RPE-specific transmembrane proteins, such as adiponectin receptor 1 (ADIPOR1) and inward rectifier potassium channel 13 (KCNJ13), ensuring their correct localization within the apical membrane of RPE cells, which is vital for visual function. Mutations in MFRP disrupt these processes and are associated with ocular diseases including nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen, often leading to retinal degeneration and vision loss.
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技术参数
- 靶点基因名
- MFRP
- 蛋白别名
- membrane frizzled-related protein; MFRP
- UniProt
- Q9BY79
- 物种
- Human
产品详情
- 靶点名称
- MFRP
- 蛋白名称
- membrane frizzled-related protein
- 蛋白别名
- Membrane frizzled-related protein; Membrane-type frizzled-related protein
- 靶点基因名
- MFRP
- UniProt
- Q9BY79
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Membrane frizzled-related protein (MFRP) is a single-pass transmembrane protein predominantly expressed in the retinal pigment epithelium (RPE) of the vertebrate eye, where it plays a crucial role in eye development and retinal homeostasis. MFRP belongs to the frizzled-related protein family and is involved in the Wnt signaling pathway, mediating cell fate determination and maintaining the organization of the retinal lipidome, particularly by regulating the enrichment of docosahexaenoic acid (DHA) and very long-chain polyunsaturated fatty acids (VLC-PUFAs) essential for photoreceptor function. It interacts with other RPE-specific transmembrane proteins, such as adiponectin receptor 1 (ADIPOR1) and inward rectifier potassium channel 13 (KCNJ13), ensuring their correct localization within the apical membrane of RPE cells, which is vital for visual function. Mutations in MFRP disrupt these processes and are associated with ocular diseases including nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen, often leading to retinal degeneration and vision loss.