University:
Swansea University
Course:
PM-133 | Evolutionary and Molecular Genetics
Academic year:

2023
Views:

487

Pages:

4
Author:

Amal J.

Growth Factorsbinds RTKMapkCellproliferationto taminate EGf activity, immediately clathrin internalize(RTK+GF)endosome.TransfeuinrecycledbackLDLirfreceptor (degrade)monouhiquitinatesGF-degradeHRS(ESCRTCOMPLES)MGPM6disomomouhlquittonrecyclebyVPS4degerecycleATPhydolysistMUoMedialgolgitrans gdgimoltivesicularretrogradeen3ymbodyreceptorFamilial hypecholostrolinia (h Dimutation)lysozymeheterozygous mutortdiseasedhomozygous mutentdye inearlydegradation.ageact tocytool.autosomal dominant discredesexcess LDL accomilateLDLmacrophage engoffin an oblimited manner andconvalto (POAM foam cell). cellfoam cell adhere to endothelial well1, 5types ofToeLigond hindind domain7 agsve change residuePeopeller domainstring of histidinecytosolic domain.high b+ conchilidine +vechargedreactwith -vecharge residuedeliver LDL 5 Types of mutation cause familial Hyperchotesterol emla.Inability to synthesize LDL receptor- -mutation in promoterIn theno transcript frongone.receptorPrevent proper foldingitselfMutation in oligand bindingdomainmutation in Surtingsignal unable to internalizeAP2 mutationconstitutivef Regulated secreationJ-proteincontAbaminProteins exist in aggregated form.^Insolin,Digestiveenzyme, Adienocarticotraphic hormanaexistinchromogeanin Avericle aschronoglaninBhelps to aggceaggateproalbuninsecreatograninproteinInvesiclecomplexintcan besignal forMr.proteinagglegation InsolinBremovedhyprotectificcleavageIntradisoffiderSBAS-SS-SInterdirolfidebond.all proteins have trons configurationexcept X-Pro no free NH3(Cys)Peolile cis- trons iromelase (Rate limitingEnzyme in proteinX-Piofolding).X - Pro(trons)(Cis)Calnexin &Calseticulinidentified the correctenzyme and allow themto do thest function.