Alaabta

Carbamoyl fosfate synthetase 1 (CPS1) yaraanta ay sabab u tahay isbeddellada CPS1 waa cillad naadir ah oo autosomal-recessive urea ah oo keenta hyperammonemia taasoo keeni karta dhimasho ama daciifnimo neerfaha.CPS1 waxay kicisaa samaynta phosphate carbamoyl ee ammonia, bicarbonate iyo laba molecules ee ATP, waxayna u baahan tahay firfircoonida allosteric N-acetyl-L-glutamate.Isbeddellada bukaan-socodyadu waxay ka dhacaan dhammaan gobolka CPS1, laakiin badiyaa qoysaska keligood ah, oo soo noqnoqonaya yar.Waxaan halkan ku tilmaamnay beddelka CPS1 ee kaliya ee soo noqnoqda, p.Val1013del, oo laga helay kow iyo toban bukaan oo aan xidhiidh la lahayn oo asal ahaan ka soo jeeda Turkiga iyadoo la adeegsanayo recombinant His-tagged nooca duurjoogta ah ama mutant CPS1 oo lagu muujiyey nidaamka unugyada baculovirus/ cayayaanka.Falcelinta caalamiga ah ee CPS1 iyo ATPase iyo ATP-yada falcelinta qayb ahaan ka tarjumaysa, siday u kala horreeyaan, bicarbonate iyo tillaabooyinka fosforyaalka karbamate, ayaa la qiimeeyay.Waxaan ogaanay in nooca duurjoogta ah ee CPS1 iyo V1013del mutant ay muujiyeen heerarka muujinta isbarbardhigga iyo nadiifnimada laakiin mutant CPS1 ma muujin waxqabadyo haraaga ah oo la taaban karo.Qaabka qaabdhismeedka CPS1, V1013 waxay iska leedahay β-strand hydrophobic aadka u sarreeya oo ku yaal bartamaha β-sheet-ka dhexe ee A subdomain ee domain fosforyaalka carbamate wuxuuna ku dhow yahay tunnel-ka carbamate ee la saadaaliyay ee isku xira labada goobood ee fosforyaalka.Daraasadaha Haplotype waxay soo jeediyeen in p.Val1013del uu yahay beddelaad aasaase.Gebogebadii, isku-beddelka p.V1013del waxa uu hawlgeliyaa CPS1 laakiin ma keeno insaymka si aad u deggan ama aan loo milmi karin.Soo noqoshada isbeddelka gaarka ah ee bukaannada Turkiga waxay u badan tahay inay sabab u tahay saameynta aasaasaha, taas oo la socota isku-dhafka joogtada ah ee lagu arkay dadka ay saameeyeen.