Član 12 potporodice A ATP-vezujuće kasete znan I kao transporter 12 ATP-vezujuće kasete jest protein koji je kod ljudikodirangenomABCA12 sa hromosoma 2.[5]
Poznato je da nekoliko mutacija gena ABCA12 uzrokuje ihtiozu tipa harlekin.[8] Predviđa se da će većina ovih mutacija dovesti do odsustva proteina ABCA12 ili proizvodnje izuzetno male verzije proteina koja ne može pravilno transportirati lipide. Gubitak funkcionalnog proteina ABCA12 uzrokuje brojne probleme u razvoju epiderme prije i nakon rođenja. Abnormalnosti u transportu lipida sprečavaju kožu da formira efikasnu barijeru i dovode do tvrdih, debelih ljuski karakterističnih za ihtiozu harlekin.
Mutacije u genu ABCA12 također uzrokuju još jedan teški poremećaj kože, lamelnu ihtiozu tip 2.[9][10] Ljudi s ovim poremećajem imaju crvenu, ljuskavu kožu nalik pločama koja pokriva većinu tijela. Mutacije ABCA12 koje uzrokuju ovaj poremećaj zamjenjuju jednu aminokiselinu (građevni blok proteina) za drugu aminokiselinu u proteinu ABCA12. Ove mutacije se gotovo uvijek javljaju u važnoj funkcionalnoj regiji proteina (regiji koja se vezuje za ATP, molekul ukoji opskrbljuje energiju za hemijske reakcije). Promjene u strukturi proteina ABCA12 vjerovatno narušavaju njegovu sposobnost transporta lipida, što utiče na razvoj kože prije i nakon rođenja.
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