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Red 2: '''Gangliozid-inducirani diferencijacijskopridruženi protein 1''' je [[protein]] koji je kod [[ljudi]] [[kodon\|kodiran]] [[gen]]om '''GDAP1'''.<ref name="pmid54332">{{cite journal \|vauthors=Gauldie J, Bhandari SC, Singal DP \| title = Alteration of the HL-A antigenic site in situ \| journal = Immunol Commun \| volume = 4 \| issue = 5 \| pages = 465–76 \|date=Apr 1976 \| pmid = 54332 \| doi = 10.3109/08820137509057334}}</ref><ref name="entrez">{{cite web \| title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1\| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332}}</ref> ==Aminokiselinska sekvenca== Dužina [[polipeptid]]nog lanca je 358 [[aminokiselina]], а [[molekularna masa\|molekulska težina]] 41.346 [[dalton (jedinica)\|Da]]. <ref name="UniProt">{{cite web\|url=http://www.uniprot.org/uniprot/Q8TB36#sequences \|title=UniProt, Q8TB36 \|language=eng. \|~~accessdate=2021-09~~access-date=18. 9. 2021}}</ref> {{legenda aminokiselina}} <table style="font-family:monospace;"> Red 17: ==Funkcija== Ovaj gen kodira člana proteinske porodice povezane sa [[gangliozid]]om, koja može imati ulogu u [[transdukcija signala\|putu transdukcije signala]] tokom razvoja [[neuron]]a. [[Mutacije]] u ovom genu povezane su s različitim oblicima [[Ovaj gen kodira člana proteinske porodice povezane sa [[gangliozidom]], koja može igrati ulogu u [[putu transdukcije signala]] tokom razvoja [[neuron]]a. Mutacije u ovom genu povezane su s različitim oblicima [[Charcot-Marie-Toothova bolest\| Charcot-Marie-Toothovom bolšću]] i [[neuropatija]]ma. Za ovaj gen su identificirane dvije [[varijante transkripta]] koje kodiraju različite [[izoforme]].<ref name="entrez" /> ==Reference== Red 47: ==External links== {{refbegin}} {{cite book \|first=Thomas D \|last=Bird \|title=Charcot-Marie-Tooth Neuropathy Type 2 \|chapter=Charcot-Marie-Tooth Neuropathy Type 2 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY \|id=NBK1285 \|date=30. ~~January~~1. 2014 \|publisher=University of Washington, Seattle \|pmid=20301462 \|url=https://www.ncbi.nlm.nih.gov/books/NBK1285/}} In {{cite book \|veditors=Pagon RA, Bird TD, Dolan CR \|title=GeneReviews [Internet] \|year=1993 \|publisher=University of Washington, Seattle \|location=Seattle WA \|url=https://www.ncbi.nlm.nih.gov/books/n/gene/TOC/ \|ref={{harvid\|GeneReviews}}\|display-editors=etal}} {{cite book \|first=Thomas D \|last=Bird \|date=~~2013-09-~~26. 9. 2013 \|title=Charcot-Marie-Tooth Neuropathy Type 4 \|chapter=Charcot-Marie-Tooth Neuropathy Type 4 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY \|publisher=University of Washington, Seattle \|id=NBK1468 \|url=https://www.ncbi.nlm.nih.gov/books/NBK1468/ }} In {{harvnb\|GeneReviews}} *{{cite book \|first1=Stephan \|last1=Züchner \|first2=Jeffery M \|last2=Vance \|date=~~2013-02-~~28. 2. 2013 \|title=Charcot-Marie-Tooth Neuropathy Type 4A \|chapter=GDAP1-Related Hereditary Motor and Sensory Neuropathy \|publisher=University of Washington, Seattle \|id=NBK1539 \|url=https://www.ncbi.nlm.nih.gov/books/NBK1539/ }} In {{harvnb\|GeneReviews}} {{refend}} [[Kategorija:Geni na hromosomu 8]] [[Kategorija:Ljudski proteini]]

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