OPN1LW is a gene on the X chromosome that encodes for long wave sensitive (LWS) opsin, or red cone photopigment. [5] The OPN1LW gene provides instructions for making an opsin pigment that is more sensitive to light in the yellow/orange part …

2024年12月25日 · OPN1LW (Opsin 1, Long Wave Sensitive) is a Protein Coding gene. Diseases associated with OPN1LW include Blue Cone Monochromacy and Colorblindness, Partial, Protan Series. Among its related pathways are GPCR downstream …

Identification of one single red-green OPN1LW/MW hybrid gene harboring a point mutation that associates with blue cone monochromatism. The photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations.

2020年4月28日 · 编码人类红-绿视蛋白的基因位于X染色体的Xq28区域上，其基因分别为OPN1LW（红视蛋白基因）和OPN1MW（绿视蛋白基因）。 基因或者其启动子区域异常会导致红绿色盲，即对长波长和中波长敏感的感光色素无法产生相应色觉信号。

2025年2月8日 · Gene target information for OPN1LW - opsin 1, long wave sensitive (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

OPN1LW 基因c.112＋2T>G变异进一步导致1号内含子经典的剪切体供体序列改变。 根据ACMG指南分析显示，c.112＋2T>G致病性评分为PVS1＋PM2＋PP1，为致病性变异。

The OPN1LW gene provides instructions for making a protein that is essential for normal color vision. This protein is found in the retina, which is the light-sensitive tissue at the back of the eye. The retina contains two types of light receptor cells, called rods and cones, that transmit visual signals from the eye to the brain.

2022年11月9日 · The developed genetic assay for the OPN1LW/OPN1MW gene cluster is a diagnostic test that can detect both structural and nucleotide variants with a straightforward analysis, improving diagnostic...

该基因编码视蛋白基因家族的一种吸光视觉色素。 编码的蛋白质称为红锥感光色素或长波长敏感视蛋白。 视蛋白是具有七个跨膜结构域、一个 N 端胞外结构域和一个 C 端胞质结构域的 G 蛋白偶联受体。 该基因与中波长视蛋白基因串联排列在 X 染色体上，这些序列之间可能发生频繁的不等重组和基因转换。 X 染色体可能具有中长波视蛋白基因的融合，或者可能具有这些基因的多个拷贝。 该基因的缺陷是部分性红色盲色盲的原因。 [RefSeq 提供，2008 年 7 月] This gene encodes …

2010年7月3日 · OPN1LW is a gene located on the X-chromosome responsible for producing the long (L) wavelength or red cone opsin in the visual system. You might find these chapters and articles relevant to this topic. Samantha R. De Silva, ... Omar A. Mahroo.