The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR) . This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.
1 янв. 2008 г.
7 дней назад · This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel. |
| Регулятор трансмембранной проводимости при муковисцидозе Белок |  |
Трансмембранный регулятор муковисцидоза — белок, участвующий в транспорте ионов хлора через мембрану клетки, а также название гена, кодирующего этот белок.
Ген CFTR находится на длинном плече 7-й хромосомы. Википедия
Entrez Gene : 1080
Локус : 7-я хр., 7q31.2
OMIM : 602421
The cystic fibrosis transmembrane conductance regulator (CFTR) protein helps to maintain the balance of salt and water on many surfaces in the body, such as the ... |
A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis. |
15 нояб. 2024 г. · Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). |
The CFTR gene provides instructions for making a protein called the CF transmembrane conductance regulator (CFTR). This protein functions as a channel. |
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. |
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