CFTR (CF transmembrane conductance regulator)
- symbol:
- CFTR
- locus group:
- protein-coding gene
- location:
- 7q31.2
- gene_family:
- Chloride channels, ATP-gated CFTR|ATP-binding cassette, sub-family C (CFTR/MRP)
- alias symbol:
- MRP7|ABC35|TNR-CFTR|dJ760C5.1|CFTR/MRP
- alias name:
- ATP-binding cassette sub-family C,…
- entrez id:
- 1080
- ensembl gene id:
- ENSG00000001626
- ucsc gene id:
- uc003vjd.4
- refseq accession:
- NM_000492
- hgnc_id:
- HGNC:1884
- approved reserved:
- 1986-01-01
CFTR（囊性纤维化跨膜传导调节因子）基因位于人类第7号染色体上，属于ABC转运蛋白超家族（ATP结合盒转运蛋白家族）。该基因编码的CFTR蛋白是一种重要的氯离子通道，主要在上皮细胞膜上表达，特别是在呼吸道、胰腺、肠道、汗腺和生殖系统中发挥关键作用。CFTR蛋白通过调节氯离子和碳酸氢盐的跨膜转运，维持细胞内外液体和电解质的平衡，并影响黏液的水合作用和黏稠度。CFTR基因突变会导致囊性纤维化（CF），这是一种常见的遗传性疾病，最常见的突变是ΔF508（苯丙氨酸508缺失），导致蛋白质错误折叠和降解，从而影响氯离子通道功能。CF患者表现为黏液异常黏稠，引发慢性肺部感染、胰腺功能不全和消化吸收障碍等症状。CFTR基因的过表达在某些情况下可能改善氯离子转运功能，但过度活跃也可能扰乱电解质平衡；而降低表达或功能缺失则直接导致囊性纤维化的典型病理特征。ABC转运蛋白家族的共性是利用ATP水解产生的能量进行底物跨膜转运，参与多种生理过程如营养物质吸收、毒素排出和信号传导等。除CFTR外，该家族还包括多药耐药蛋白（MDR）和磺酰脲受体（SUR）等成员。CFTR的研究不仅促进了对囊性纤维化的理解，还为开发靶向治疗（如CFTR调节剂药物）提供了基础，极大改善了患者预后。
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]
None
基因本体信息
CFTR基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
CFTR基因的本体（GO）信息：
| 名称 |
|---|
| 2010 ABC transporters [PATH:hsa02010] |
| 4024 cAMP signaling pathway [PATH:hsa04024] |
| 4152 AMPK signaling pathway [PATH:hsa04152] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4976 Bile secretion [PATH:hsa04976] |
| 5110 Vibrio cholerae infection [PATH:hsa05110] |
| 名称 |
|---|
| ABC-family proteins mediated transport |
| RHO GTPase Effectors |
| RHO GTPases regulate CFTR trafficking |
| Signal Transduction |
| Signaling by Rho GTPases |
| Transmembrane transport of small molecules |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Cystic Fibrosis | 0.8 | 1178 | 355 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT |
| Congenital bilateral aplasia of vas deferens | 0.509163832 | 95 | 20 | BeFree_CLINVAR_CTD_human_GAD_ORPHANET_UNIPROT |
| Pancreatitis | 0.22483508 | 64 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Pancreatitis, Chronic | 0.173492707 | 66 | 3 | BeFree_CTD_human_GAD_LHGDN |
| Male infertility | 0.168111358 | 41 | 1 | BeFree_CTD_human_GAD |
| Azoospermia | 0.142074006 | 34 | 0 | BeFree_CTD_human_GAD |
| Bronchiectasis | 0.130901282 | 15 | 1 | BeFree_CLINVAR_GAD |
| Sinusitis | 0.127915422 | 7 | 0 | BeFree_CTD_human_GAD |
| Rhinitis | 0.127101096 | 4 | 0 | CTD_human_GAD |
| Hereditary pancreatitis | 0.121085767 | 4 | 9 | BeFree_CLINVAR |
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