The cystic fibrosis transmembrane conductance regulator (CFTR) is defective in cystic fibrosis (CF). This protein is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The gene that encodes the CFTR protein, which is also called CFTR, is located on chromosome 7.

2024年9月25日 · CFTR2 is a website that provides information for patients, researchers, and the general public about specific variants in what is commonly referred to as the cystic fibrosis (CF) gene. For each variant or variant combination included in the database, the website will provide information about: 1.

Cystic fibrosis transmembrane conductance regulator (CFTСR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [5][6] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis). [7]

2024年12月24日 · CFTR (CF Transmembrane Conductance Regulator) is a Protein Coding gene. Diseases associated with CFTR include Cystic Fibrosis and Vas Deferens, Congenital Bilateral Aplasia Of . Among its related pathways are wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF) and Selective autophagy .

This review summarizes the science behind CFTR modulators, including their targets, mechanism of action, clinical benefit, and future directions in the field. CFTR modulators have dramatically changed how CF is treated, validated CFTR as a therapeutic target, and opened the door to truly personalized therapies and treatment regimens.

2023年3月27日 · cftr是一种维持上皮和其他膜上盐分和液体正确平衡的阴离子通道。 CFTR突变是导致囊性纤维化的原因，但这些突变会以不同的方式影响CFTR的功能。

2023年3月22日 · CFTR belongs to the ATP-binding cassette transporter family of proteins, but uniquely functions as an ion channel 4. It consists of two transmembrane domains that form an ion permeation pathway,...

囊性纤维化 （Cystic Fibrosis）是一种由单基因突变引起的隐性遗传病，该基因编码了表皮细胞细胞膜上的阴离子通道 CFTR （Cystic Fibrosis Transmembrane Conductance Regulator）蛋白。 CFTR蛋白 属于 ABC转运蛋白 （ATP-binding cassette transporters）家族。 该家族的绝大多数成员利用ATP结合及水解所释放的能量对不同的底物进行逆浓度梯度的主动跨膜运输，包括无机离子、营养物质以及药物等。 但是，CFTR蛋白却是该家族中唯一一个发挥离子通道作用的成员， …

2023年1月18日 · 囊性纤维化（cystic fibrosis, CF）是一种常见的致命的遗传性疾病1，它由编码cystic fibrosis transmembrane conductance regulator （CFTR）的基因突变引起2,3。 CFTR广泛的表达在上皮细胞的细胞表面，调节体内多个组织器官的水盐平衡。 CFTR的缺失或异常会引起营养不良，肝脏疾病，反复的细菌感染，慢性炎症及呼吸衰竭4。 CFTR蛋白属于ATP-binding cassette （ABC）超家族。 与其它利用ATP水解产生的化学能来逆浓度梯度的转运底物的ABC …

2024年3月8日 · CFTR（囊性纤维化转运子）是一种重组蛋白，它在人类身体中发挥着重要的功能。 CFTR基因位于人类第七号染色体的长臂上，包含27个外显子和26个内含子。 CFTR蛋白由1480个氨基酸残基组成，分子量为约170kDa。 它主要存在于细胞膜上，是一种离子通道蛋白。 目录号 PA1000-9537. CFTR的主要功能是调节细胞内外氯离子的通透性，从而影响细胞内外的离子平衡。 CFTR也被称为“氯离子通道调节器”，是细胞膜上唯一一个能调节氯离子通透性的蛋白 …