Cftr - CF transmembrane conductance regulator Gene

中文名称：CF 跨膜电导调节器

种属: Rattus norvegicus

同用名: RGD1561193

关于 Cftr

功能概要

预计该基因编码的蛋白可启动多项功能，包括 PDZ 域绑定活动； Sec61 易位子复合物结合活性；和阴离子跨膜转运体活性。参与多个过程，包括动物器官发育；负离子运输；和细胞发育的调节。位于几种细胞成分中，包括顶端质膜；基底外侧质膜；和微绒毛。与早期内体共定位。用于研究先天性双侧输精管缺如；囊性纤维化;牙釉质发育不全;十二指肠溃疡;和胃溃疡。常染色体隐性多囊肾病的生物标志物；胆汁淤积;和输卵管炎。该基因的人类直系同源基因与多种疾病有关，包括酒精性胰腺炎；过敏性支气管肺曲霉病;支气管疾病（多发）；先天性双侧输精管缺如（多发）；和肺部疾病（多种）。与人类 CFTR（CF 跨膜电导调节器）同源。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable several functions, including PDZ domain binding activity; Sec61 translocon complex binding activity; and anion transmembrane transporter activity. Involved in several processes, including animal organ development; anion transport; and regulation of cell development. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and microvillus. Colocalizes with early endosome. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Apr 2022]