检测编号：NS0280066

基因 CFTR 与疾病

CFTR基因编码氯离子、钠离子通道蛋白，表达于气道、消化道、生殖道上皮细胞以及气管、胰腺等组织细胞。氯离子能够调节细胞的含水量，该基因突变导致体液的含水量出现异常，从而导致气管、消化道、生殖系统等组织器官功能异常；该基因突变亦会影响钠离子通道的正常功能，从而影响肺和胰腺等组织的功能。

基因名称	基因全名	基因位置	外显子个数	CDS长度
CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	7q31.2	27	约6131 bp
基因摘要	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008].