103
20/11/2011 09:52 OMIM Entry - *602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR Page 1 of 103 file:///Users/Samyah/Desktop/CFTR.webarchive !!"#$#% &'()*& ,*-./(*( ).01(232-.013 &/145&)01&3 .36570)/.8 &,). !"#$%&'#()$ #(#"$+, +-./0"+ 0)9:-*14*16 &0((3))3; (5-,02*7' &; 232-3. <8 0-&&< !"#$ &''()*+, "+-+ ./01)23 $456 $/7)8+-+79: 2):;79)-3 <=>?@A "+-)09: :))(,9-;7+B C"6$D><E3 <3??<F?AGFG?H I ??<F>GJF<?J (from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ocation Phenotype Phenotype MIM number <[\%S# &EGLIG@?FM C@MF?IDFM FC>IGAI EB TF> JIBIDIG> #<<%W" &=>?@A B@CDE>@> #%U<"" (RIF? APMED@JI IMITF?@EG R@?PEK? &, ]-DEGAP@IA?F>@> R@?P ED R@?PEK? IMITF?IJ >RIF? APMED@JI %; HEJ@B@ID EB^ #%%$"" ]_=QID?D=Q>@GIH@F; GIEGF?FM^ ]9FGADIF?@?@>; @J@EQF?P@A^ %!<W""

All About Cftr

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Page 1: All About Cftr

20/11/2011 09:52OMIM Entry - *602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Page 1 of 103file:///Users/Samyah/Desktop/CFTR.webarchive

!!"#$#%

&'()*&+,*-./(*(+).01(232-.013+&/145&)01&3

.36570)/.8+&,).

!"#$%&'#()$*#(#"$+,*+-./0"+

0)9:-*14*16+&0((3))3;+(5-,02*7'+&;+232-3.+<8+0-&&<

!"#$%&''()*+,%"+-+%./01)23%$456

$/7)8+-+79:%2):;79)-3%<=>?@A "+-)09:%:))(,9-;7+B%C"6$D><E3%<3??<F?AGFG?H%I%??<F>GJF<?J(from NCBI)

"#$#%&'#$()*+#%,#-.)/($0'/+0

1231

4#056/+)/($

&=>?@A+B@CDE>@>+?DFG>HIHCDFGI+AEGJKA?FGAI+DILKMF?ED+N&,).O+BKGA?@EG>+F>+F+APMED@JI+APFGGIMFGJ+ AEG?DEM>+ ?PI+ DILKMF?@EG+ EB+ E?PID+ ?DFG>QED?+ QF?PRF=>S+2K?F?@EG>+ @G+ ?PI+&,).+ LIGI+ PFTICIIG+ BEKGJ+ ?E+ AFK>I+ A=>?@A+ B@CDE>@>+ N&,8+ #%U<""O+ FGJ+ AEGLIG@?FM+ C@MF?IDFM+ FQMF>@F+ EB+ ?PI+ TF>JIBIDIG>+N&-0V48+#<<%W"OS

7-($/$8

.@EDJFG+ I?+ FMS+ N%UWUO+ @>EMF?IJ+ ETIDMFQQ@GL+ A410+ AMEGI>+ BDEH+ IQ@?PIM@FM+ AIMM+ M@CDFD@I>+R@?P+ FLIGEH@A+ 410+ >ILHIG?+ AEG?F@G@GL+ F+ QED?@EG+ EB+ ?PI+ QK?F?@TI+ &,+ LIGIS+ )DFG>AD@Q?>FQQDEX@HF?IM=+!;Y""+GKAMIE?@JI>+@G+>@ZI+RIDI+JI?IA?FCMI+@G+?PI+?@>>KI>+FBBIA?IJ+@G+QF?@IG?>+R@?P&,S+)PI+QDIJ@A?IJ+QDE?I@G+AEG>@>?>+EB+#+>@H@MFD+HE?@B>;+IFAP+R@?P+F+JEHF@G+PFT@GL+QDEQID?@I>

Location Phenotype PhenotypeMIM number

<[\%S# &EGLIG@?FM+C@MF?IDFM+FC>IGAI+EB+TF>+JIBIDIG> #<<%W"&=>?@A+B@CDE>@> #%U<""(RIF?+APMED@JI+IMITF?@EG+R@?PEK?+&, +]-DEGAP@IA?F>@>+R@?P+ED+R@?PEK?+IMITF?IJ+>RIF?+APMED@JI+%;+HEJ@B@ID+EB^ #%%$""]_=QID?D=Q>@GIH@F;+GIEGF?FM^ +]9FGADIF?@?@>;+@J@EQF?P@A^ %!<W""

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AEG>@>?IG?+R@?P+HIHCDFGI:F>>EA@F?@EG;+FGJ+F+JEHF@G+CIM@ITIJ+?E+CI+@GTEMTIJ+@G+0)9+C@GJ@GLS*G+ &,+ QF?@IG?>;+ F+ JIMI?IJ+ QPIG=MFMFG@GI+ DI>@JKI+ EAAKD>+ F?+ ?PI+ AIG?ID+ EB+ ?PI+ QK?F?@TI+ B@D>?GKAMIE?@JI:C@GJ@GL+BEMJ+N1-,OS+)PI+QDIJ@A?IJ+QDE?I@G+PF>+%;$W"+FH@GE+FA@J>+R@?P+F+HEMIAKMFDHF>>+ EB+ %!W;%\W+ 4FS+ )PI+ APFDFA?ID@>?@A>+ FDI+ DIHFD`FCM=+ >@H@MFD+ ?E+ ?PE>I+ EB+ ?PI+ HFHHFM@FGHKM?@JDKL+DI>@>?FG?+9:LM=AEQDE?I@G+N%<%"Y"O;+RP@AP+FM>E+HFQ>+?E+<[;+FGJ+?E+F+GKHCID+EB+E?PIDHIHCDFGI:F>>EA@F?IJ+ QDE?I@G>S+ )E+ FTE@J+ AEGBK>@EG+ R@?P+ ?PI+ QDIT@EK>M=+ GFHIJ+ &,+ FG?@LIGN%#\WWYO;+ .@EDJFG+ I?+ FMS+ N%UWUO+ DIBIDDIJ+ ?E+ ?PI+ QDE?I@G+ F>+ A=>?@A+ B@CDE>@>+ ?DFG>HIHCDFGIAEGJKA?FGAI+DILKMF?ED+N&,).OS

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`@GL+ FGJ+ aKHQ@GL;+ .EHHIG>+ I?+ FMSN%UWUO+ >KAAIIJIJ+ @G+ AETID@GL+ ?PI+&,+ DIL@EG+ EG+ <[S+ )PI+ aKHQ@GL+ ?IAPG@[KI+RF>+ QFD?@AKMFDM=K>IBKM+ @G+C=QF>>@GL+ bKGAMEGFCMIb+ DIL@EG>;+RP@AP+FDI+I>?@HF?IJ+?E+AEG>?@?K?I+Yc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

6DIIG+FGJ+/M>EG+N%UU"O+JI>AD@CIJ+F+LIGIDFM+>?DF?IL=+BED+AMEG@GL+FGJ+HFQQ@GL+MFDLI+DIL@EG>+EBPKHFG+410+R@?P+=IF>?+FD?@B@A@FM+APDEHE>EHI>+N'0&>OS+-=+FGFM=Z@GL+\"+'0&+AMEGI>+BDEH+?PIDIL@EG+EB+APDEHE>EHI+<+AEG?F@G@GL+?PI+&,).+LIGI;+F+AEG?@L+HFQ+>QFGG@GL+HEDI+?PFG+%SY+2CQRF>+F>>IHCMIJS+ *GJ@T@JKFM+'0&>+F>+ MFDLI+F>+<U"+`C+FGJ+AEG?F@G@GL+ ?PI+IG?@DI+&,+LIGI+RIDIAEG>?DKA?IJ+ @G+ T@TE+ C=+HI@E?@A+ DIAEHC@GF?@EG+ @G+ =IF>?+ CI?RIIG+ QF@D>+ EB+ ETIDMFQQ@GL+'0&>S0GFGJ+ I?+ FMS+ N%UU%O+ JI>AD@CIJ+ ?PI+ QP=>@AFM+ HFQQ@GL+ EB+ F+ %SY:2CQ+ DIL@EG+ IGAEHQF>>@GL+ #LIGI?@A+ MEA@+ BMFG`@GL+ ?PI+ &,+ MEAK>+ FGJ+ AEG?F@GIJ+R@?P@G+ F+ >ID@I>+ EB+ '0&+ AMEGI>S+ )PI+ IG?@DI&,).+ LIGI+ RF>+ @GAMKJIJ+ R@?P@G+ %+ EB+ ?PI>I+ '0&>;+ F+ \%":`C+ AMEGI+ FM>E+ AEG?F@G@GL+ BMFG`@GL>I[KIGAI+@G+CE?P+?PI+Y:QD@HI+FGJ+\:QD@HI+J@DIA?@EG>+BDEH+?PI+LIGIS

"#$#%9)6:5):6#

.@EDJFG+I?+FMS+N%UWUO+@JIG?@B@IJ+#$+IXEG>+@G+?PI+&,).+LIGIS

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d@?P+?PI+PEQI+EB+ @JIG?@B=@GL+AEG>IDTIJ+DIL@EG>+EB+C@EMEL@A+ @G?IDI>?+C=+>I[KIGAI+AEHQFD@>EG;3MM>RED?P+ I?+ FMS+ N#"""O+ >EKLP?+ ?E+ I>?FCM@>P+ ?PI+ >I[KIGAI+ EB+ ?PI+ APDEHE>EHFM+ >ILHIG?>IGAEHQF>>@GL+?PI+PKHFG+&,).+FGJ+HEK>I+&B?D+LIGI>S+-FA?ID@FM+AMEGI:CF>IJ+QP=>@AFM+HFQ>+EB?PI+DIMITFG?+PKHFG+FGJ+HEK>I+LIGEH@A+DIL@EG>+RIDI+AEG>?DKA?IJ;+FGJ+H@G@HFMM=+ETIDMFQQ@GL>I?>+EB+AMEGI>+RIDI+>IMIA?IJ+FGJ+>I[KIGAIJS+0GFM=>I>+EB+?PI+DI>KM?@GL+JF?F+QDET@JIJ+@G>@LP?>FCEK?+ ?PI+ EDLFG@ZF?@EG+ EB+ ?PI+ &,).e&B?D+ LIGI>+ FGJ+ QE?IG?@FM+ >I[KIGAI+ IMIHIG?>+ DILKMF?@GL?PI@D+IXQDI>>@EGS

;.++/$8

.@EDJFG+I?+FMS+N%UWUO+HFQQIJ+?PI+&,).+LIGI+?E+APDEHE>EHI+<[S+,ED+FJJ@?@EGFM+@GBEDHF?@EG+EG?PI+HFQQ@GL+EB+?PI+LIGI+BED+A=>?@A+B@CDE>@>;+>II+#%U<""S

)PI+ HFQQ@GL+ EB+ ?PI+ HKD@GI+ I[K@TFMIG?+ EB+ ?PI+ d1)#+ FGJ+ 23)+ N%!$W!"O+ LIGI>+ ?E+ HEK>IAPDEHE>EHI+!+ N&PFG+I?+ FMS;+ %UWUO+ >?DEGLM=+ @GJ@AF?IJ+ ?PF?+ ?PI+HEK>I+I[K@TFMIG?+EB+ ?PI+ A=>?@AB@CDE>@>+LIGI+@>+FM>E+MEAF?IJ+EG+APDEHE>EHI+!S+-=+(EK?PIDG+FGFM=>@>+EB+HEK>Ie&P@GI>I+PFH>?ID>EHF?@A+AIMM+P=CD@J+410>;+fIMMI=+I?+FMS+N%UU#O+HFQQIJ+?PI+&B?D+LIGI+?E+APDEHE>EHI+!S+5>@GLDI>?D@A?@EG+BDFLHIG?+MIGL?P+TFD@FG?>+N.,7V>O+@G+?PI+>?KJ=+EB+@G?ID>QIA@B@A+CFA`ADE>>I>;+(@ILIM+I?FMS+N%UU#O+JIHEG>?DF?IJ+?PF?+?PI+&B?D+LIGI+@G+?PI+HEK>I+@>+AME>I+?E+2I?+FGJ+&EMF:#S+)DIZ@>I+I?+FMSN%UU#O+JIHEG>?DF?IJ+?PF?+?PI+&B?D+MEAK>+@>+EG+DF?+APDEHE>EHI+$S+(?KJ=+EB+E?PID+MEA@+>KLLI>?IJ?PF?+FG+FGAI>?DFM+HFHHFM@FG+APDEHE>EHI+@>+DIQDI>IG?IJ+C=+?PI+QDI>IG?:JF=+DF?+APDEHE>EHI$g+ Y+ LIGI>+ FDI+ >=G?IG@A+ EG+ DF?+ APDEHE>EHI+ $+ FGJ+ HEK>I+ APDEHE>EHI+ !+ CK?+ FDI+ J@T@JIJCI?RIIG+PKHFG+APDEHE>EHI>+<+FGJ+%#S+0GE?PID+Y+LIGI>+?PF?+FDI+>=G?IG@A+EG+DF?+APDEHE>EHI$+FGJ+PKHFG+APDEHE>EHI+<+FDI+J@T@JIJ+CI?RIIG+APDEHE>EHI>+Y+FGJ+!+@G+?PI+HEK>IS

"#$#%<:$5)/($

*G+ FJJ@?@EG+ ?E+ BKGA?@EG@GL+ F>+ F+ APMED@JI+ APFGGIM;+ &,).+ AEG?DEM>+ ?PI+ DILKMF?@EG+ EB+ E?PID?DFG>QED?+ QF?PRF=>S+ ,ED+ IXFHQMI;+ QF?@IG?>+ R@?P+ &,+ FGJ+ ?PI+ PEHEZ=LEK>+ &,).:JIB@A@IG?HEK>I+ PFTI+ IGPFGAIJ+ >EJ@KH+ @EG+ FC>EDQ?@EG8+ ?P@>+ IGPFGAIJ+ >EJ@KH+ @EG+ FC>EDQ?@EG+ @>AEDDIA?IJ+C=+FJJ@?@EG+EB+ F+R@MJ?=QI+ AEQ=+EB+&,).S+&,).+FGJ+EK?RFDJM=+ DIA?@B=@GL+ APMED@JIAPFGGIM>+N/.&&>O+FDI+J@>?@GA?+APFGGIM>+CK?+FDI+M@G`IJ+BKGA?@EGFMM=+T@F+FG+KG`GERG+DILKMF?ED=HIAPFG@>HS+ (APR@ICID?+ I?+ FMS+ N%UUYO+ QDI>IG?IJ+ DI>KM?>+ BDEH+ RPEMI:AIMM+ FGJ+ >@GLMI:APFGGIMQF?AP:AMFHQ+ DIAEDJ@GL>;+ >PED?:A@DAK@?+ AKDDIG?+ DIAEDJ@GL>;+ FGJ+0)9:DIMIF>I+ F>>F=>+ EB+ GEDHFM;&,;+ FGJ+R@MJ?=QI+ED+HK?FG?+&,).:?DFG>BIA?IJ+&,+F@DRF=+AKM?KDIJ+IQ@?PIM@FM+ AIMM>+ @GJ@AF?@GL?PF?+&,).+DILKMF?I>+/.&&>+C=+?D@LLID@GL+?PI+?DFG>QED?+EB+?PI+QE?IG?+FLEG@>?;+0)9;+EK?+EB+?PIAIMMS+ )PI+ DI>KM?>+ >KLLI>?IJ+ ?PF?+ &,).+ BKGA?@EG>+ ?E+ DILKMF?I+ E?PID+ APMED@JI+ @EG+ >IADI?ED=QF?PRF=>+@G+FJJ@?@EG+?E+AEGJKA?@GL+APMED@JI+@EG+@?>IMBS

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0+[KFM@?=+AEG?DEM+>=>?IH+?PF?+DFQ@JM=+JILDFJI>+FCGEDHFM+HIHCDFGI+FGJ+>IADI?ED=+QDE?I@G+@>>?D@GLIG?M=+ FQQM@IJ+ ?E+ ?PI+&,).+ QDE?I@G8+ FQQDEX@HF?IM=+ <Yc+ EB+ ?PI+R@MJ?=QI+ QDIAKD>ED+ FGJ%""c+ EB+ ?PI+ JIM,Y"W+ TFD@FG?+ FDI+ DFQ@JM=+ JILDFJIJ+ CIBEDI+ IX@?@GL+ BDEH+ ?PI+ IGJEQMF>H@ADI?@AKMKH+ N3.OS+ h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AFK>@GL+HK?F?@EG>+?PF?+FAAEKG?IJ+BED+U!c+EB+&,+FMMIMI>S

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