Dec 24, 2024 · CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3) is a Protein Coding gene. Diseases associated with CNGB3 include Achromatopsia 3 and Achromatopsia. Among its related pathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling.

The CNGB3 gene provides instructions for making one part (the beta subunit) of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. These channels are found exclusively in light-detecting (photoreceptor) cells called cones, which are located in a specialized tissue at the back of the eye known as the retina.

Feb 8, 2025 · Gene ID: 54714, updated on 8-Feb-2025. This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors.

Cyclic nucleotide gated channel beta 3, also known as CNGB3, is a human gene encoding an ion channel protein. [5]

Dec 15, 2004 · Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total...

该基因编码环核苷酸门控离子通道的β亚基。 编码的 β 亚基似乎在调节视锥光感受器的通道功能中发挥作用。 这种异四聚体通道是感觉转导所必需的，并且该基因的突变与全色盲 3、进行性视锥细胞营养不良和青少年黄斑变性 (也称为 Stargardt 病) 有关。 [RefSeq 提供，2010 年 2 月] This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors.

Jan 4, 2025 · This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors.

We show that CNGB3 regulates the cone light response and channel structural flexibility. CNGB3-deficient cones show impaired photopic a-wave and b-wave responses, altered light adaptation, and compromised ability to function in bright light. CNGA3 channels lacking CNGB3 are more resilient to proteolytic digestion than CNGA3/CNGB3 channels.

CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1074 independent families clinically diagnosed with achromatopsia.

CNGB3的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为该基因编码一个环核苷酸门控离子通道的β亚基。 的编码的β亚基显示在信道功能的调节中锥光感受器发挥作用。 此异四信道是必要的感官转导，并且在该基因的突变已与色盲3，渐进锥体营养不良，和幼年性黄斑变性，也称为Stargardt病相关联。 [由RefSeq的，2010年2月提供]