Cftr - cystic fibrosis transmembrane conductance regulator Gene

中文名称：囊性纤维化跨膜电导调节因子

种属: Mus musculus

同用名: Abcc7

关于 Cftr

功能概要

由该基因编码的膜相关蛋白是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族（ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White）。该蛋白是参与多药耐药性的 MRP 亚家族的成员。该基因编码囊性纤维化跨膜调节剂和控制其他运输途径调节的氯离子通道。该基因的突变与囊性纤维化和先天性双侧输精管发育不全等常染色体隐性遗传疾病有关。已观察到外显子 4、5 和 11 的可变剪接，但尚未完全描述全长转录本。 [RefSeq 提供，2008 年 7 月]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a Chloride Channel that controls the regulation of Other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]