منظم موصلية التليف الكيسي عبر الغشاء

بروتين في الإنسان العاقل

☰ جدول المحتويات

نبذة تمهيدية
الجين
- الطفرات
التركيب
الموقع والوظيفة
حالات مُرتبطة
المراجع
- قراءات إضافية

منظم موصلية التليف الكيسي عبر الغشاء (Cystic fibrosis transmembrane conductance regulator)‏ ويُدعى اختصارًا CFTR، هو بروتين غشائي وقناة كلوريد في الفقاريات، ويُشفر بواسطة جين CFTR.^[1]^[2]

Cystic fibrosis transmembrane conductance regulator

المعرفات

الأسماء المستعارة

channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, ATP-binding cassette sub-family C member 7, 3.6.3.49, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), CFTR, cystic fibrosis transmembrane conductance regulating

معرفات خارجية

أورثولوج

الأنواع

الإنسان

الفأر

أنتريه

n/a

Ensembl

n/a

يونيبروت


n/a


n/a

RefSeq (مرسال ر.ن.ا.)


n/a


n/a

RefSeq (بروتين)


n/a


n/a

الموقع (UCSC

n/a

بحث ببمد

n/a

ويكي بيانات

الجين

الطفرات

التركيب

الموقع والوظيفة

حالات مُرتبطة

المراجع

Gadsby DC, Vergani P, Csanády L (2006). "The ABC protein turned chloride channel whose failure causes cystic fibrosis". Nature. 440 (7083): 477–83. Bibcode:2006Natur.440..477G. doi:10.1038/nature04712. PMC . PMID 16554808.
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N (سبتمبر 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. 245 (4922): 1059–65. Bibcode:1989Sci...245.1059R. doi:10.1126/science.2772657. PMID 2772657.
Thiagarajah JR, Verkman AS (2012). "CFTR inhibitors for treating diarrheal disease". Clinical Pharmacology and Therapeutics. 92 (3): 287–90. doi:10.1038/clpt.2012.114. PMC . PMID 22850599.

قراءات إضافية

Kulczycki LL, Kostuch M, Bellanti JA (2003). "A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations". Am. J. Med. Genet. A. 116A (3): 262–7. doi:10.1002/ajmg.a.10886. PMID 12503104.
Vankeerberghen A, Cuppens H, Cassiman JJ (2002). "The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions". J. Cyst. Fibros. 1 (1): 13–29. doi:10.1016/S1569-1993(01)00003-0. PMID 15463806.
Tsui LC (1992). "Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium". Hum. Mutat. 1 (3): 197–203. doi:10.1002/humu.1380010304. PMID 1284534.
McIntosh I, Cutting GR (1992). "Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis". FASEB J. 6 (10): 2775–82. PMID 1378801.
Drumm ML, Collins FS (1993). "Molecular biology of cystic fibrosis". Mol. Genet. Med. 3: 33–68. doi:10.1016/b978-0-12-462003-2.50006-7. PMID 7693108.
Kerem B, Kerem E (1996). "The molecular basis for disease variability in cystic fibrosis". Eur. J. Hum. Genet. 4 (2): 65–73. PMID 8744024.
Devidas S, Guggino WB (1997). "CFTR: domains, structure, and function". J. Bioenerg. Biomembr. 29 (5): 443–51. doi:10.1023/A:1022430906284. PMID 9511929.
Nagel G (1999). "Differential function of the two nucleotide binding domains on cystic fibrosis transmembrane conductance regulator". Biochim. Biophys. Acta. 1461 (2): 263–74. doi:10.1016/S0005-2736(99)00162-5. PMID 10581360.
Boyle MP (2000). "Unique presentations and chronic complications in adult cystic fibrosis: do they teach us anything about CFTR?". Respir. Res. 1 (3): 133–5. doi:10.1186/rr23. PMC . PMID 11667976.
Greger R, Schreiber R, Mall M, Wissner A, Hopf A, Briel M, Bleich M, Warth R, Kunzelmann K (2001). "Cystic fibrosis and CFTR". Pflugers Arch. 443 Suppl 1: S3-7. doi:10.1007/s004240100635. PMID 11845294.
Bradbury NA (2001). "cAMP signaling cascades and CFTR: is there more to learn?". Pflugers Arch. 443 Suppl 1: S85-91. doi:10.1007/s004240100651. PMID 11845310.
Dahan D, Evagelidis A, Hanrahan JW, Hinkson DA, Jia Y, Luo J, Zhu T (2001). "Regulation of the CFTR channel by phosphorylation". Pflugers Arch. 443 Suppl 1: S92-6. doi:10.1007/s004240100652. PMID 11845311.
Cohn JA, Noone PG, Jowell PS (2002). "Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene". J. Investig. Med. 50 (5): 247S–255S. PMID 12227654.
Schwartz M (2003). "[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]". Ugeskrift for Læger. 165 (9): 912–6. PMID 12661515.
Wong LJ, Alper OM, Wang BT, Lee MH, Lo SY (2003). "Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations". Am. J. Med. Genet. A. 120A (2): 296–8. doi:10.1002/ajmg.a.20039. PMID 12833420.
Cuppens H, Cassiman JJ (2004). "CFTR mutations and polymorphisms in male infertility". Int. J. Androl. 27 (5): 251–6. doi:10.1111/j.1365-2605.2004.00485.x. PMID 15379964.
Cohn JA, Mitchell RM, Jowell PS (2005). "The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis". Clin. Lab. Med. 25 (1): 79–100. doi:10.1016/j.cll.2004.12.007. PMID 15749233.
Southern KW, Peckham D (2004). "Establishing a diagnosis of cystic fibrosis". Chron Respir Dis. 1 (4): 205–10. doi:10.1191/1479972304cd044rs. PMID 16281647.
Kandula L, Whitcomb DC, Lowe ME (2006). "Genetic issues in pediatric pancreatitis". Curr Gastroenterol Rep. 8 (3): 248–53. doi:10.1007/s11894-006-0083-8. PMID 16764792.
Marcet B, Boeynaems JM (2006). "Relationships between cystic fibrosis transmembrane conductance regulator, extracellular nucleotides and cystic fibrosis". Pharmacol. Ther. 112 (3): 719–32. doi:10.1016/j.pharmthera.2006.05.010. PMID 16828872.
Wilschanski M, Durie PR (2007). "Patterns of GI disease in adulthood associated with mutations in the CFTR gene". Gut. 56 (8): 1153–63. doi:10.1136/gut.2004.062786. PMC . PMID 17446304.