
cox20

manushyaril cox 20 jeane encode cheiyunna oru proteinaan cytochrome sii ooksides assembly factor cox 20. eee jeane shwasana paathayude oru pradhana gadakamaaya cytochrome sii ooksides asambliyil oru punk vahikkunna oru proteine encode cheiyunnu. eee jeenil undaakunna mutationukal mitocondrial complexes IV-nte kuravinu kaaranamakum. eee jeeninu onniladhikam syoodojenukal undu. badal spliesing onniladhikam traanskript vakabhedangalil kalaashikkunnu.
ghadana.
cox 20" jeane chromosome 1-nte kyu bahubhagathu 44-aamm sthaanathu sthithicheyyunnu, ithu 9,757 bays jodikalil vyaapichukidakkunnu. cox 20" jeane 118 amino aasidukal chernna 13.3 kiloo dii. eiii protein uthpaadippikkunnu. ithil rund transmembran helikkukal adangiyirikkunnu, ithu mitocondrial membranilekku praadeshikavalkkarikkuppadu.
pravartthanam.
cytochrome sii ooksides (complexes IV) assembly cheiyunnathinu aavashyamaaya oru proteinaayi "cox 20" jeane encode cheiyunnu. molecular ooksijan vazhi cytochrome siyude ooksideshan uthejippikkunnathinu aavashyamaaya mitocondrial respiratory cheyinte terminal complexaanu complexes IV. cox 2 (cytochrome sii ooksides subunit II) pakwathayude aadyaghattangalil cox 20 oru chaaperon proteinaayi pravarthikkunnathaayi ariyappedunnu, ithu proteente sthirathayilekku nayikkunnu. metalokaaperons skoo 1, skoo 2 ennivaykku cox 2 avatharippikkunnathiloode, pakwathayulla cox 2 neey complexes IV holoensime asambliyil ulppeduthaan avaa sahayikkunnu. ennirunnaalum, cox 2 allengil mattethenkilum jeenukalude transcriptionilo vivarthanathilo cox 20 nuu swaadheenamillennu ariyappedunnu. protein cox 20 kurayunnathu shwasana sheshi kurayunnathinum shwasana shringhala idanilakkaarude shekharanathinum kaaranamaakumenn theliyikkappettittund.
klinikkal praadhaanyam.
cox 20" yude vakabhedangal mitocondrial complexes IV-nte kuravumaayi bandhappettirikkunnu, ithu mitocondrial respiratory cheyinte oru ensime complexile kuravaanu, ithu molecular ooksijan upayogichu cytochrome siyude ooksideshan uthejippikkunnu. otappetta mayoppathi muthal niravadhi koshangaleyum avayavangaleyum badhikkunna gurutharamaaya multisistom rogam vareyulla vaividhyamaarnna phenotypeukal eee kuravinte savisheshathayaanu. hypertrophic cardiomayoppathy, hepattomegali, karal takaraar, hypotonia, peshikalude balaheenata, vyayaama asahishnutha, vikasana kaalathamasam, motor vikasanam vaikuka, maanasika vaikalyam ennivayaanu mattu klinikkal prakadanangal. cox 20" jeenil c.154a-c nte homocygus mutation cox 20, cytochrome sii ooksides enniva kuraykkaanum pravartthanam kuraykkaanum kaaranamaakumenn kandethiyittundu. mattu mutationukalil oru homocygus tii52pii ulppedunnu.
ashayavinimayam.
tmem177, cox2, skoo1, coa6 thudangiya proteinukalumaayi cox20-nuu cox2, cox18 ennivaye aasrayichulla reethiyil saha-sankeernamaaya edapedalukalundu.